Human Genetics. Proceedings of the 6th International Congress..., Sept. 13-18, 1981, Jerusalem: Medical aspects. II, Teil 2Batsheva Bonné-Tamir Liss, 1982 - 619 Seiten |
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... deficiencies . More recently , patients have been described with deficient activities of all these carboxylases . Two forms of the multiple carboxylase deficiency have been identified ( Table III ) , both being responsive to biotin ...
... deficiencies . More recently , patients have been described with deficient activities of all these carboxylases . Two forms of the multiple carboxylase deficiency have been identified ( Table III ) , both being responsive to biotin ...
Seite 286
... deficiency C2 deficiency C4 deficiency Spinocerebellar ataxia ( one form ) Asymmetric septal 1 hypertrophy ( one form ) Atrial septal defect 2 ( one form ) 1 2 1 1 2 3 1 Fig . 2. The morbid anatomy of the human genome . 1 2 22 3.
... deficiency C2 deficiency C4 deficiency Spinocerebellar ataxia ( one form ) Asymmetric septal 1 hypertrophy ( one form ) Atrial septal defect 2 ( one form ) 1 2 1 1 2 3 1 Fig . 2. The morbid anatomy of the human genome . 1 2 22 3.
Seite 287
... deficiency 1 ) 1 1 ) Hemolytic anemia due to triosephosphate isomerase deficiency 117 1 13 1 1 10 15 Wolman's disease 22 2 23 2 Acute intermittent porphyria 2 | ? Waardenburg syndrome Hemolytic anemia due to adenylate kinase deficiency ...
... deficiency 1 ) 1 1 ) Hemolytic anemia due to triosephosphate isomerase deficiency 117 1 13 1 1 10 15 Wolman's disease 22 2 23 2 Acute intermittent porphyria 2 | ? Waardenburg syndrome Hemolytic anemia due to adenylate kinase deficiency ...
Inhalt
Carrier Detection | 15 |
HLA and Infectious Diseases | 37 |
HLA and Diabetes | 55 |
Urheberrecht | |
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abnormalities activity addition affected allele analysis antigens appears association binding biochemical blood carrier cells changes chromosome clinical common complex cultured defect deficiency Department determined diabetes diabetes mellitus diagnosis disease disorders distribution dominant environmental enzyme estimated et al evidence expression factors fibroblasts findings frequency gene glucose haplotypes heterogeneity heterozygotes Hum Genet human hypertension IDDM immune important increased indicated individuals inheritance internalization involved Italy levels linkage linked locus lysosomal major marker measured Medical method mode of inheritance multiple mutant neural tube normal observed occur origin pairs parents patients phenotype population possible pregnancy prenatal present problems protein recently receptor recessive relative reported Research response risk screening showed shown significant specific structure studies suggested syndrome Table tissue trait translocation tumor twin ulcer University values York