Литература к главе 4

965. Agarwal D. P., Goedde H. W. (1984). Alkoholmetabolisierende Enzyme: Alkoholunvertraglichkeit und Alkoholkrankheit. In: Zang K. D. (ed.), Klinische Genetik des Alkoholismus, Verlag W. Kohlhammer, Stuttgart, pp. 65-89.

966. Alter B. P. (1985). Antenatal diagnosis of thalassemia: a review, Ann. NY Acad. Sci., 445, 393-407.

967. Alter B. P., Nathan D. G. (1978). Antenatal diagnosis of haematological disorders - "1978", Clin. Haematol., 7, 195-216.

968. Amara S. G., Jonas V., Rosenfeld M. G., Ong E. S., Evans R. M. (1982). Alternative RNA processing in calcitonin gene expression generates mRNAs encoding different polypeptide products, Nature, 298, 240-244.

968a. Amrheim J. A., Meyer W. J. III, Jones H. W., Migeon C. J. (1976). Androgen insensitivity in man: Evidence for genetic heterogeneity, Proc. Natl. Acad. Sci. USA, 73, 891-894.

969. Anonymous (1973). Pharmacogenetics, Report of a WHO scientific group, WHO technical Report Series N, 524, Geneva.

970. Anonymous (1978). Editorial: Fetal haemoglobin in sickle-cell anaemia and thalassemia - a clue to therapy? Lancet, 1, 971-972.

971. Anonymous (1984). Report on the Workshop "Molecular Basis of Polymorphic Drug Oxidation in Man", Otzenhausen, 1983, Eur. J. Clin. Pharmacol., 27, 253-257.

972. Antonarakis S. E., Kazazian H. H., Jr., Orkin S. H. (1985). DNA polymorphism and molecular pathology of the human globin gene clusters, Hum. Genet., 69, 1-14.

973. Anton-Lamprecht I., Schnyder U. W. (1974). Ultrastructure of inborn errors of keratinization. VI. Inherited ichthyoses - a model system for heterogeneities in Keratinization disturbances, Arch. Dermatol. Forsch., 250, 207-227.

974. Anton-Lamprecht I., Hashimoto I. (1976). Epidermolysis bullosa dystrophica dominans (Pasini) - A primary structural defect of the anchoring fibrils, Hum. Genet., 32, 69-76.

975. Atlas S. A., Vesell E. S., Nebert D. W. (1976). Genetic control of interindividual variations in the inducibility of aryl hydrocarbon hydroxylase in cultured human lymphocytes, Cancer Res., 36, 4619.

976. Ayesh R., Idle J.R., Ritchie J. C., Crothers M.J., Hetzel M. R. (1984). Metabolic oxidation phenotypes as markers for susceptibility to lung cancer, Nature, 312, 169-170.

977. Bach G., Friedman R., Weissman В., Neufeld E. F. (1972). The defect in the Hurler and Scheie syndromes: deficiency of α-L-iduronidase, Proc. Natl. Acad. Sci. USA, 69, 2048.

978. Bangham A. D. (1968). Membrane models with phospholipids, Progr. Biophys., 18, 29-95.

979. Bank A. (1978). Critical review. The thalassemia syndromes, Blood, 51, 369-384.

980. Bank A., Mears J. G., Ramirez F. (1979). Organization of the human globin genes in normal and thalassemia cells. In: Stamatoyannopoulos G., Nienhuis A. (eds.), Cellular and molecular regulation of hemoglobin switching, Grune and Stratton, New York, pp. 521-539.

981. Baralle F. E., Shoulders С. С., Proudfoot N. J. (1980). The primary structure of the human epsilonglobin gene, Cell, 21, 621-626.

982. Barranger J. A. (1984). Marrow transplantation in genetic disease, N. Engl. J. Med., 311, 1629-1631.

983. Bartoldi F., Giovenco S., Sostia W., Maiconi W., Morisi F., Pittalis F., Prospen G., Spotorno G. (1977). Biomedical application of fibre entrapped enzymes, Pharmacol. Res. Comm., 9, 521-546.

984. Bartholome K., Lutz P., Bickel H. (1975). Determination of phenylalanine hydroxylase activity in patients with phenylketonuria and hyperphenylalaninemia, Pediatr. Res., 9, 899-903.

985. Bauknecht T. (1977). Studies on steroid hormone receptors (5α-Dihydrotestosterone, Estradiol, and Dexamethasone) in cultured human fibroblasts and amniotic fluid cells, Hum. Genet., 39, 321-328.

986. Beadle G. W. (1945). Biochemical genetics, Chem. Rev., 37, 15-96.

987. Beadle G. W., Ephrussi B. (1936). The differentiation of eye pigment in drosophila as studied by transplantations, Genetics, 21, 225-247.

988. Beadle G. W., Tatum E. L. (1941). Genetic control of biochemical reactions in neurospora, Proc. Natl. Acad. Sci. USA, 27, 499-506.

989. Beauchamp G. K., Yamazaki K., Boyse E. A. (1985). The chemosensory recognition of genetic individuality, Sci. Am., 253, 86-92.

990. Becker M. A., Kostel P.J., Meyer L.J., Seegmiller J. E. (1973). Human phosphoribosylpyrophosphate synthetase: increased enzyme specific activity in a family witch gout and excessive purine synthesis, Proc. Natl. Acad. Sci. USA, 70, 2749.

991. Beet E. A. (1949). The genetics of the sickle cell trait in a Bantu tribe, Ann. Eugen, 14, 279.

992. Bellingham A. J. (1976). Haemoglobins with altered oxygen affinity, Br. Med. Bull., 32, 234-238.

993. Benohr H. Chr., Waller H. D. (1973). Eigenschaften der Glutathionreductase von Erythrocyten Gesunder und Enzymmangeltrager, Klin. Wochenschr., 51, 1177.

994. Benohr H. C., Waller H. D. (1975). Metabolism in haemolytic states, Clin. Haematol., 4, 45-62.

995. Bercroft D. M., Phillips L. I. (1965). Hereditary orotic aciduria and megaloblastic anemia: A second case with response to uridine, Br. Med. J., 1, 547.

996. Betke K., Beutler K., Brewer G. J., Kirkman H. N., Luzzato L., Motulsky A. G., Rcanot В., Siniscalco M. (1967). Standardization of procedures for the study of glucose-6-phosphate dehydrogenase, WHO Tech. Rep. Ser., No 366.

997. Beutler E. (1969). Glutathione reductase stimulation in normal subjects by ribiflavin supplementation, J. Clin. Invest., 48, 1957.

998. Beutler E. (1969). Effect of flavin compounds on glutathione reductase activity: in vivo and in vitro studies, J. Clin. Invest., 48, 1957-1966.

999. Beutler E. (1969). G-6-PD activity of individual erythrocytes and X-chromosomal inactivation. In: Yunis J. J. (ed.), Biochemical methods in red cell genetics, Academic Press, New York, pp. 95-113.

1000. Beutler E. (1975). Red cell metabolism. A manual of biochemical methods, Grune and Stratton, New York, London.

1001. Beutler E. (1978). Hemolytic anemia in disorders of red cell metabolism, Plenum, New York, London.

1002. Beutler E. (1983). Glucose-6-phosphate dehydrogenase deficiency. In: Stanbury J. В., Wyngaarden J. В., Fredrickson D. S., Goldstein J., Brown M. (eds.), The metabolic basis of inherited disease, 5th ed., McGraw-Hill, New York, pp. 1629-1653.

1003. Beutler E. (1979). Review: Red cell enzyme defects as nondiseases and as diseases, Blood, 54, 1-7.

1004. Bickel H. (1953). Influence of phenylalanine intake on phenylketonuria, Lancet, II, 812.

1005. Bienzle U. (1981). Glucole-6-phosphate dehydrogenase deficiency, Clin. Haematol., 10, 785-799.

1006. Bird A. P. (1984). DNA methylation - how important in gene control? Nature, 307, 503-504.

1007. Blomback M., Blomback В., Mammen E. F., Prasad A. S. (1968). Fibrinogen Detroit - a molecular defect in the N-terminal disulphide knot of human fibrinogen? Nature, 218, 134.

1008. Blyumina M. G. (1981). Blood serum phenylalanine level in heterozygotes for the phenylketonuria gene under conditions of intensified protein catabolism, Genetika (Moskva), 17, 910-914.

1009. Boivin P., Gerland С (1965). La synthese du glutathion au cours de l'anemie hemolytique congenitale avec deficit en glutathion reduit, Deficit congenital en glutathion-synthetase erytrocytaire? Nouv. Rev. Er. Hematol., 5, 606.

1010. Borthwell Т. Н., Charlton R. W., Motulsky A. G. (1983). Idiopathic hemochromatosis. In: Stanbury J. В., Wyngaarden J. В., Fredrickson D. S., Goldstein J. L., Brown M. S. (eds.), The Metabolic Basis of Inherited Disease, 5th Ed., McGraw-Hill, New York, pp. 1269-1298.

1011. Boue J., Bom A., Philippe E., Giraud A., Deluchat C. (1973). Phenotypes of karyotyped abortuses, Bull. Eur. Soc. Hum. Genet., 32.

1012. Boyer S. H., Dover G. J., Serjeant G. R., Smith K. D., Antonarakis S. E., Embury S. H., Margolet L., Noyes A. N., Boyer M. L., Bias W.B. (1984). Production of F cells in sickle cell anemia: regulation by a genetic locus or loci separate from the P-globin gene cluster, Blood, 64, 1053-1058.

1013. Boyer S. H., Rucknagel D. L., Weatherall D. J., Watson-Williams E. J. (1963). Further evident for linkage between the β and δ loci governing human hemoglobins and the population dynamics of linked genes, Am. J. Hum. Genet., 15, 438-448.

1014. Bradley Т. В., Boyer S. H., Allen F. H. (1961). Hopkins-2-hemoglobin: a revised pedigree with data on blood and serum groups, Bull. Johns Hopkins Hosp., 108, 75-79.

1015. Brady R. D., Koloday E. H. (1973). Disorders of ganglioside metabolism, ProG. Med. Genet., 8, 225-242.

1016. Braunitzer G., Hilschmann N., RudloffV., Hilse K., Liebold В., Muller R. (1961). The haemoglobin particles. Chemical and genetic aspects of their structure, Nature, 190, 480.

1017. Brewer G. J. (1971). Annotation: Human ecology, an expanding role for the human geneticist. Am. J. Hum. Genet., 23, 92-94.

1018. Brewer G. J. (1980). Inherited erythrocyte metabolic and membrane disorders, Med. Clin. North America, 64, 579-596.

1019. Britten R. J., Davidson E.H. (1969). Gene regulation for higher cells. A theory, Science, 165, 349-357.

1020. Bross K., Dittes H., Krone W., Schmid M., Vogel W. (1973). Biochemical and cytogenetic studies on the nucleolus organizing regions (NOR) of man. I. Comparison of trisomy 21 with balanced translocations t(DqGq), Hum. Genet., 20, 223-229.

1021. Bross K., Krone W. (1972). On the number of ribosomal RNA genes in man, Hum. Genet., 14, 137.

1022. Bross K., Krone W (1973). Ribosomal cistrons and acrocentric chromosomes in man, Hum. Genet, 18, 71-75.

1023. Brown M. S., Goldstein J. L. (1974). Expression of the familial hypercholesterolemia gene in heterozygotes: mechanism for a dominant disorder in man, Science, 185, 61-63.

1024. Buckley R. H., Gilbertsen R. B., Schiff R. I., Ferreira E., Sanal S. O., Waldmann T. A. (1976). Heterogeneity of lymphocyte subpopulations in severe combined immunodeficiency: evidence against a stem cell defect, J. Clin. Invest., 58, 130-136.

1025. Burke B. E., Shotton D. M. (1983). Erythrocyte J. Haematol., 54, 173- 187.

1026. Burki K., Liebelt A. G., Bresnick E. (1975). Simple vs. complex inheritance of inducible aryl hydrocarbon hydroxylase in mouse tissues, Biochem. Genet., 13, 417-433.

1027. Butenandt A. (1953). Biochemie der Gene und Genwirkungen, Naturwissenschaften, 40, 91-100.

1028. Butterflield D. A., Chesnut D.B., Roses D., Appel S. H. (1974). Electron spin resonance studies of erythrocytes from patients with myotonic muscular dystrophy, Proc. Natl. Acad. Sci. USA, 71, 909-913.

1029. Cantz M., Gehler J. (1976). The mucopolysaccharidoses: Inborn errors of glycosaminoglycan catabolism, Hum. Genet., 32, 233-255.

1030. Carson P. E., Flanagan C. L., Ickes C. E., Alving A. S. (1956). Enzymatic deficiency in primaquine-sensitive erythrocytes, Science, 124, 484-485.

1031. Cassimos C., Malaka-Zejiriu K., Tsiures J. (1974). Variations in salycilamide glucuronide formation in normal and in G-6-PD deficient children, J. Pediatr., 84, 110-111.

1032. Chandley A. C. (1981). The chromosomal basis of human infertility, Brit. Med. Bull., 35. 181-186.

1033. Chakravarti A., Buetow K. H., Antonarakis S. E., Waber P. G., Boehm C. D., Kazazian H.H. (1984). Nonuniform recombination within the human β-globin cluster, Am. J. Hum. Genet., 36, 1239-1258.

1034. Childs В., Zinkham W. (1958). A genetic study of a defect in glutathione metabolism of the erythrocyte, Johns Hopkins Med. J., 102, 21-37.

1035. Cleaver J. E. (1972). Xeroderma pigmentosum: Variants with normal DNA repair and normal sensitivity to ultraviolet light, J. Invest. Dermatol., 58, 124-128.

1036. Cleaver J. E., Bootsma D.(1975). Xeroderma Pigmentosum: Biochemical and Genetic Characteristics, Ann. Rev. Genet, 9, 19-38

1037. Clegg J. В., Weather all D. J. (1976). Molecular basis of thalassaemia, Br. Med. Bull., 32, 262-269.

1038. Cleve H. (1981). H.-Y. antigen and sex determination. The Tenth Arne Tiselius Memorial lecture. In: Peeters H. (ed.), Protides of the biological fluids, Vol. 29, Pergamon Press, Oxford, New York, pp. 3-12.

1039. Cohen A. S. (1972). Inherited systemic amyloidosis. In: Stanbury J. В., Wyngaarden J. В., Fredrickson D. S. (eds.), The metabolic basis of inherited disease, 3rd ed., McGraw-Hill, New York, pp. 1273-1294.

1040. Collins F. S., M ether all J. E., Yamakawa M., Pan J., Weissman S. M., Forget B. G. (1985). A point mutation in the Ayglobin gene promoter in Greek hereditary persistence of fetal haemoglobin, Nature, 313, 325-326.

1041. Collins F.S., Weissman S.M. (1984). The Molecular Genetics of Human Hemoglobins, Proc. Nucleic Acid Res. Mol. Biol., 31, 315-462.

1042. Comings D. E. (1972). The structure and function of chromatin, Adv. Hum. Genet., 3, 237-431.

1043. Conner B. J., Reyes A. A., Morin C., Itakura K., Tepliz R. L., Wallace R. B. (1983). Detection of sickle ps-globin allele by hybridization with synthetic oligonucleotides, Proc. Natl. Acad. Sci. USA, 80, 278.

1044. Cori G. T., Cori C. F. (1952). Glucose-6-phos-phatase of the liver in glycogen storage disease, J. Biol. Chem., 199, 661.

1045. Costa Т., Scriver C. R., Childs B. (1985). The effect of Mendelian disease on human health: a measurement, Am. J. Med. Genet., 21, 231-242.

1046. Cotte J., Kissin C., Mathieu M., Poncet J., Monnet P., Salle В., German D. (1968). Observations on a case of partial deficiency of erythrocyte ATPase, Rev, Fr. Etudes Clin. Biol., 13, 284.

1047. Courtney M., Jaliat S., Tessier L.-H. Benavente A., Crystal R.G., bzcocq J.-P. (1985). Synthesis in E. coli of α₁-antitrypsin variants of therapeutic potential for emphysema and thrombosis, Nature, 313, 149-151.

1048. Cox R. P., Krauss M. R., Balis M. E., Dancis J. (1970). Evidence for transfer of enzyme product as the basis of metabolic cooperation between tissue culture fibroblasts of Lesch-Nychan disease and normal cells, Proc. Natl. Acad. Sci. USA, 67, 1573-1579.

1049. Dacie J. V., Mollison P. L., Richardson N., Selwyn J. G., Shapiro L. (1953). Atypical congenital haemolytic anemia, Q. J. Med., 22, 79.

1050. Dayer P., Balant L., Fabre J. (1984). The genetic control of drug oxidation in the liver, Internat. J. Chin. Pharmacol., 3, 421-425.

1051. Dayer P., Balant L., Kupfer A., Courvoisier F., Fabre J. (1983). Contribution of the genetic status of oxidative metabolism to variability in the plasma concentrations of beta-adrenergic blocking agents, Eur. J. Clin. Pharmacol, 24, 787-799.

1052. Dean M. F., Muir H., Benson P. F., Button L. R., Boylston A., Mowbray J. (1976). Enzyme replacement therapy by fibroblast transplantation in a case of Hunter syndrome, Nature, 261, 323-326.

1053. De Bruyn C. H. M. M. (1976). Hypoxanthine-Guanine phosphoribosyl transferase deficiency, Hum. Genet, 31, 127-150.

1054. Diesseroth A., Nienhuis A., lawrence J., Giles R., Turner P., Ruddle F. H. (1978). Chromosomal localization on human P globin gene on human chromosome 11 in somatic cell hybrids, Proc. Natl. Acad. Sci. USA, 75, 1457-1460.

1055. Diesseroth A., Nienhuis A., Turner P., Velez R., Anderson W.F., Ruddle F., Lawrence J., Creagan R., Kucherlapati R. (1977). Localization of the human α-globin structural gene to chromosome 16 in somatic cell hybrids by molecular hybridization assay, Cell, 12, 205-218.

1056. Desnick R. J. (1979). Prospects for enzyme therapy in the lysosomal storage diseases of Ashkenazi Jews, pp. 253-270. In: Goodman R. M., Motulsky A. G. (eds.), Genetic diseases among Ashkenazi Jews, Raven Press, New York.

1057. Desnick R. J. (ed.) (1980). Enzyme therapy in genetic diseases, A Liss, New York.

1058. Desnick R. J., Grabowski G. A. (1981). Advances in the treatment of inherited metabolic diseases, Adv. Hum. Genet, 11, 281-369.

1059. Dicke W. K., Weijers H. A., van de Kamer J. H. (1953). Coeliac disease: the presence in wheat of a factor having a deleterious effect in cases of coeliac disease, Acta Paediatr., 42, 34-42.

1060. Diebold K., Hafner H., Vogel F., Schalt E. (1968). Die myoklonischen Varianten der familiaren amaurotischen Idiotie, Hum. Genet, 5, 119-164.

1061. Dittes H., Krone W., Bross K., Schmid M., Vogel W. (1975). Biochemical and cytogenetic studies on the nucleolus organizing regions (NOR) of man. II. A family with the 15-21 translocation, Hum. Genet, 26, 47-59.

1062. Drayer D. E., Reidenberg M.M. (1977). Clinical consequences of polimorphic acetylation of basic drugs, Clin. Pharmacol. Ther., 22, 251-258.

1063. Dugaiczyk A., Woo S. L. C., Iai E. C., Mace M. L. jr., McReynolds L., O'Malley B. W. (1978). The natural ovalbumin gene contains seven intervening sequences, Nature, 274, 328-333.

1064. Edwards Y. H., Hopkinson D. A., Harris H. (1971). Inherited variants of human nucleoside phosphorylase, Ann. Hum. Genet., 34, 395-408.

1065. Eichelbaum M., Bertilsson L., Sawe J., Zekorn C. (1982). Polymorphic oxidation of spatreine and debrisoquine: related pharmacogenetic entities, Clin. Pharmacol. Therap., 31, 184-186.

1066. Elston R. C., Graham J. В., Miller C.H., Reisner H. M., Войта В.М. (1976). Probabilistic classification of hemopholia A carriers by discriminant analysis, Thromb. Res., 8, 683-695.

1067. Emery A. E. H. (1980). Duchenne muscular dystrophy. Genetic aspects, carrier detection and antenatal diagnosis, Br. Med. Bull., 36, 117-122.

1068. Emery A. E. H., Anand R., Danford N.. Duncan W., Pawn L. (1978). Arylhydrocarbon-hydroxylase inducibility in patients with cancer, Lancet, I, 470-472.

1068a. Engel W. (1982). Geschlechtsdifferehzierung und ihre Storungen, Verh. Dtsch. Gesi Path, 66, 329-343.

1069. Epstein C. J. (1977). Inferring from modes of inheritance to the mechanisms of genetic disease. In: Rowland L. P. (ed.), Pathogenesis of human muscular dystrophies, Excerpta Medica, Amsterdam, pp. 9-22.

1070. Epstein C. J. (1985). Mouse monosomies and trisomies as axperimental systems for studying mammalian aneuploidy, TIG, 1, 129-134.

1071. Evans D. A. P. (1986). Pharmacogenetics. In: King R. A., Rotter J. I., Motulsky A. G. (eds.), The Genetic Basis of Common Disease, McGrawHill, New York (in press).

1072. Evans D. A. P., Harmer D., Downham D. Y., Whibley E. J., Idle J. R., Ritchie J., Smith R. L. (1983). The genetic control of sparteine and debrisoquine metabolism in man with new methods of analysing bimodal distribution, J. Med. Genet, 20, 321-329.

1073. Evans D. A. P., Manley K., McKusick V. A. (1960). Genetic control of isoniazid metabolism in man, Br. Med. J., II, 485.

1074. Evans H. J. (1977). Facts and fancies relating to chromosome structure in man, Adv. Hum. Genet, 8, 347-438.

1075. Filip D. J., Eckstein J. D., Veltkamp J. J. (1976). Hereditary antithrombin III deficiency and thromboembolic disease, Am. J. Hematol., 2, 343-349.

1076. Fisch R. O., Simes L. K., Torres F., Anderson J. A. (1965). Studies on families of phenylketonurics, Am. J. Dis. Child., 109, 427-431.

1077. Flatz G. (1971). Population study of erythrocyte glutathione reductase activity. II. Hematological data of subjects with low enzyme activity and stimulation characteristics in their families, Hum. Genet., 11, 278-285.

1078. Flatz. G. (1971). Population study of erythrocyte glutathione reductase activity. I. Stimulation of the enzyme by flavin adenine dinucleotide and by riboflavin substitution, Hum. Genet., 11, 269-277.

1079. Flatz G., Xirotiris N. (1976). Glucose-6-phosp-hat-Dehydrogenase. In: Becker P. E. (ed.), Humangenetik, ein kurzes Handbuch, Vol. 1/3, Thieme, Stuttgart, pp. 495-535.

1080. Foiling A. (1934). Uber Ausscheidung von Phenylbrenztraubensaure in den Harn als Stoffwechselanomalie in Verbindung mit Imbezillitat, Hoppe Seylers Z. Physiol. Chem., 227, 169.

1081. Forbes G. B. (1953). Glycogen storage disease, J. Pediatr., 42, 645.

1082. Forget B. G. (1978). Molecular lesions in thalassemia, Trends in Biochemical Science, Vol. 3, 86-90.

1083. Forget B. G., Wilson J. Т., Wilson L. В., Cavallesco C., Reddy V. В., de Riel J. K., Biro A. P., Ghosh P. K., Weissman S.M. (1979). Globin mRNA structure: general features and sequence homology. In: Stamatoyannopoulos G, Nienhuis A. (eds.), Cellular and molecular regulation of hemoglobin switching, Grune and Stratton, New York, pp. 569-593.

1084. Franceschetti A., Klein D. (1954). Le depistage des heterozygotes. in: Gedda L. (ed.), Genetica medica, Orrizonte Midico, Rome.

1085. Eraser F. C., Walker B. E., Trasler D. G. (1957). Experimental production of congenital cleft palate: Genetic and environmental factors, Pediatrics [Suppl], 19, 782.

1086. Fratantoni J. С., Hall C. W., Neufeld E. F. (1968). Hunter and Hurler syndromes. Mutual correction of the defect in cultured fibroblasts, Science, 162, 570-572.

1087. Fredrickson D. S., Goldstein J. L., Brown M. S. (1978). The familial hyperlipoproteinemias. In: Stanbury J. В., Wyngaarden J. В., Fredrickson D. S. (eds.), The metabolic basis of inherited disease, 4th ed., pp. 604-655, MaGraw-Hill, New York.

1088. Frezal J., Munnich A., Mitchell G. (1983). One gene, several messages. From multifunctional proteins to endogenous opiates, Hum. Genet., 56, 311-314.

1089. Friedman M. J. (1978). Erythrocytic mechanism of sickle cell resistance to malaria, Proc. Natl. Acad. Sci. USA, 75, 1994-1997.

1090. Friedmann Т., Seegmiller J. E., Subak-Sharpe J. H. (1968). Metabolic cooperation between genetically marked human fibroblasts in tissue culture, Nature, 220, 272-274.

1091. Garrod A. E. (1963). Inborn errors of metabolism, London 1923, reprinted by Oxford Univ. Press

1092. Geha R. S., Rosen R. S., Merler E. (1973). Identification and characterization of subpopulations of lymphocytes in human peripheral blood after fractionation on discontinuous gradients of albumin: the cellular defect in X-linked agammaglobulinemia, J. Clin. Invest., 52, 1726-1734.

1093. Gelinas R., Endlich В., Pfeiffer C., Yagi M., Stamatoyannopoulos G. (1985). G to A substitution in the distal CCAAT box of the A y-globin gene in Greek hereditary persistence of fetal hemoglobin, Nature, 313, 323-325.

1094. Geisler M., Kleinebrecht J., Degenhardt K.-H. (1972). Histologische Analysen an triploiden Spontanaborten, Hum. Genet., 16, 283-294.

1095. Helb A. F., Klein E., Lieberman J. (1977). Pulmonary function in nonsmoking subjects with alpha 1 - antitrypsine deficiency (MZ phenotype), Am. J. Med., 62, 93.

1096. George D. L., Francke U. (1976). Gene dosage effect: regional mapping of human nucleoside phosphorylase on chromosome 14, Science, 194, 851-852.

1097. Gerhard D. S., Kidd K. K., Kidd J. R., Egeland J. A. (1984). Identification of a recent recombination event within the human β-globin gene cluster, Proc. Natl. Acad. Sci. USA, 81, 7875-7879.

1098. Giblett E. R., Anderson J. E., Cohen F., Foliarа В., Neuwissen H. J. (1972). Adenosine deaminase deficiency in two patients with severely impaired cellular immunity, Lancet, II, 1067-1069.

1099. Gibson Q. H. (1948). The reduction of methae-moglobin in red blood cells and studies on the cause of idiopathic methaemoglobulinaemia Biochem J., 42, 13-23.

1100. Gibson Q. H, Harrison D. C. (1947). Familial idiopathic methaemoglobinemia, Lancet, II, 941-943.

1101. Gilbert W. (1978). Why genes in pieces? nature, 271, 501.

1102. Glenner G. G., Ignaczak T. F., Page D. L. (1978). The inherited systemic amyloidoses and localized amyloid deposits. In: Stanbury J. В., Wyngaarden J. В., Fredrickson D. S. (eds), The metabolic basis of inherited disease, 4th ed., McGraw-Hill, New York, pp. 1308-1339. (Summary 5th ed., pp. 1468-1469).

1103. Goedde H. W., Agarwal D. P. (1978). Pseudocholinesterase variation, International Titisee Conference, Titisee, 13-15, October 1977, Hum Genet. [Suppl. 1], 45-56.

1104. Goedde H. S., Altland K. (1971). Suxamethonium sensitivity, Ann. NY Acad. Sci., 179, 670-695.

1105. Goedde H. W., Altland K., Scholler K. L. (1967). Therapie der durch genetisch bedingte Pseudocholinesterase-Varianten verursachten verlangerten Apnoe nach Succinylcholin, Med. Klin., 62, 1631-1635.

1106. Coldschmidt R. B. (1935). Gen und Ausseneigenschaft (Untersuchungen an Drosophila) I. und II. Mitt. Z. Vererbungslehre, 10, 74-98.

1107. Goldstein J. L., Brown M. S. (1977). The lowdensity lipoprotein pathway and its relation to atherosclerosis, Ann. Rev. Biochem., 46, 897-930.

1108. Goldstein J. L., Brown M. S., Stone N. J. (1977). Genetics of the LDL receptor: evidence that the mutations affecting binding and internalization are alleliC., Cell, 12, 629-641.

1109. Goldstein J. L., Hazzard W. R., Schrott H. G., Bierman E. L., Motulsky A. G. (1973). Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, J. Clin. Invest., 54, 1544-1568.

1110. Gorrod J. W., Jenner P., Keysell G. R., Mikhael B. R. (1974). Oxidations metabolism of nicotine by cigarette smokers with cancer of the urinary bladder, J. Natl. Cancer Inst., 52, 1421-1424.

1111. Craham J. B. (1979). Genotype assignment (carrier detection) in the haemophilias. Clin. Haematol., 8, 115-145.

1111 A. Graham J. В., Barrow E. S., Reisner H. M., Edgell C. J. S. (1983). The genetics of blood coagulation, Adv. Hum. Genet., 13, 1-81.

1112. Gralnick H. R., Finlayson J. S. (1972). Congenital dysfibrinogenemias, Ann. Intern. Med., 77, 471-473.

1113. Grant D. M., Tang B. K., Kalow W. (1982). Polymorphic N-acetylation of a caffeine metabolite in man, Clin. Pharmacol. Therap., 33, 355-359.

1114. Griffin J. E., Wilson J. D. (1980). The syndrome of androgen resistance, N. Engl. J. Med., 302, 198-209.

1115. Gropp A., Kolbus U., Giers D. (1975). Systematic approach to the study of trisomy in the mouse. П. Cytogenet. Cell Genet., 14, 42-62.

1116. Guthrie R., Susi A. (1963). A simple phenylalanine method for detecting phenylketonuria in large populations of newborns, Pediatrics, 32, 338 XUl. Haldane J. B. S. (1954). The Biochemistry of Genetics, London.

1118. Hanel H. K., Cohn J., Harvald B. (1971). Adenosinetriphosphate deficiency in a family with nonspherocytic anaemia, Hum. Hered., 21, 313-319.

1119. Harper P. S. (1986). Carrier detection in Duchenne muscular dystrophy: a critical assessment, ProG. Med. Genet. N. S.

1120. Harvald В., Hanel H. K., Squires R., Trap-Jensen J. (1964). Adenosine - triphosphatase deficiency in patients with nonspherocytic hemolytic anemia, lancet, II, 18.

1121. Herrick J. B. (1910). Peculiar elongated and sickleshaped red blood corpuscles in a case of severe anemia, Arch. Intern. Med., 6, 517.

1122.Higgs D. R., Hill A. V. S., Micholls R., Goodbourn S. E. Y., Ayyub H., Teal H., Clegg J. В., Weatherall D. J. (1985). Molecular rearrangements of the human α-gene cluster, Ann. NY Acad. Sci., 445, 45-56.

1123. Hilschmann N., Kratzin H., Altevogt P., Ruban E., Kortt A., Staroscik C., Scholz R., Palm W, Barnikol H.-U., Barnikol-Watanabe S., Bertram J., Horn J., Engelhard M., Schneider M., Dreher W. (1976). Evolutionary origin of antibody specificity. In: Goodman M., Tashian R. E. (eds.), Molecular anthropology, Plenum Press, New York, London, pp. 369-386.

1124. Hilschmann N., Watanabe S., Barnikol H. U., Laure C. J., Bertram J., Horn J., Engelhard M., Schneider M., Dreker L. (1975). Die Rolle der Evolution im Immunsystem, Nova Acta Leopoldina, 42, 189-222.

1125. Hirsch W., Мех A., Vogel F. (1967). Metabolic traits in mentally retarded children as compared with normal populations: Phenylalanine and tyrosine in serum and urine, J. Ment. Defic. Res., 11, 212-227.

1126. Hirschhorn R., Beratis N., Rosen F. S., Parkman R., Stern R., Polmar S. (1975). Adenosine deaminase deficiency in a child diagnosed prenatally, Lancet, I, 73-75.

1127. Hirschhorn R., Martiniuk F., Rosen F. S. (1979). Adenosine deaminase activity in normal tissues and tissues from a child with severe combined immunodeficiency and adenosine deaminase deficiency, Clin. Immunol. Immunopathol, 14, 107-120.

1128. Hirschhorn R., Weissmann G. (1976). Genetic disorders of Lysosomes, ProG. Med. Genet. [New Series], 1, 49-101.

1129. Hoof F. van, Hers H. G. (1964). Ultrastructure of hepatic cells in Hurler's disease (gargoylism), Cr Acad. Sci. [D] (Paris), 259, 1281.

1130. Horlein H., Weber G. (1948). Uber chronische familiare Methamoglobinamie und eine neue Modification des Methamoglobins, Dtsch. Med. Wochenschr., 72, 476.

1131. Howell R. R. (1972). Genetic disease: The present status of treatment, Hosp. Pract, 7, 75-84.

1132. Howell R. R., Stevenson R.E. (1971). The offspring of phenylketonuric women, Soc. Biol., 18, 519-529.

1133. Howell D. R., Williams J. С (1983). The glycogen stoarage diseases. In Stanbury et al. (eds.), The metabolis basis of inherited disease, 5th ed., McGraw-Hill, New York etc., pp. 141-166.

1134. Hsia D. Y.-Y. (1957). The laboratory detection of heterozygotes, Am. J. Hum. Genet., 9, 97-116.

1135. Huehns E. R., Dance N., Beaven G. H., Hecht F., Motulsky A. G. (1964). Human embryonic hemoglobins, Cold Spring Harbor Symp. Quant. Biol., 29, 327-331.

1136. Huisman Т. Н. J., Wilson J. В., G