Deleterious missense mutations and silent polymorphism in the human 17β-hydroxysteroid dehydrogenase 3 gene (HSD17B3)

Journal of Clinical Endocrinology and Metabolism

Volumn 83, Issue 8, 1998, Pages 2855-2860

  Moghrabi, Nabil ^a   Hughes, Ieuan A ^b   Dunaif, Andrea ^c   Andersson, Stefan ^a,d  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^c PENN STATE COLLEGE OF MEDICINE   (United States)

^d UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

TESTOSTERONE 17BETA DEHYDROGENASE;

ALLELE; ANDROGEN SYNTHESIS; ARTICLE; CASE REPORT; ENZYME ACTIVITY; ESTROGEN SYNTHESIS; GENE FREQUENCY; GENE MUTATION; GENETIC POLYMORPHISM; HUMAN; MALE; MALE PSEUDOHERMAPHRODITISM; MISSENSE MUTATION; OVARY POLYCYSTIC DISEASE; PRIORITY JOURNAL; STEROIDOGENESIS; STRUCTURE ACTIVITY RELATION; TESTOSTERONE SYNTHESIS;

17-HYDROXYSTEROID DEHYDROGENASES; ADOLESCENT; BASE COMPOSITION; CHILD; DNA; FEMALE; GLYCINE; HUMANS; MALE; MUTAGENESIS, SITE-DIRECTED; MUTATION; POLYCYSTIC OVARY SYNDROME; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PSEUDOHERMAPHRODITISM; SEQUENCE ANALYSIS, DNA; SERINE;

EID: 0031757587     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.83.8.2855     Document Type: Article

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