Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3.

Geissler, W M; Davis, D L; Wu, L; Bradshaw, K D; Patel, S; Mendonca, B B; Elliston, K O; Wilson, J D; Russell, D W; Andersson, S

Geissler, W M; Davis, D L; Wu, L; Bradshaw, K D; Patel, S; Mendonca, B B; Elliston, K O; Wilson, J D; Russell, D W; Andersson, S.

Affiliation

Geissler WM; Department of Biochemistry, Merck Research Laboratories, Rahway, New Jersey 07065.

Nat Genet ; 7(1): 34-9, 1994 May.

Article in En | MEDLINE | ID: mdl-8075637

Subject(s)

17-Hydroxysteroid Dehydrogenases/genetics; Disorders of Sex Development/genetics; Isoenzymes/genetics; Point Mutation; Testis/enzymology; 17-Hydroxysteroid Dehydrogenases/deficiency; Adolescent; Amino Acid Sequence; Androstenedione/metabolism; Base Sequence; Chromosomes, Human, Pair 9; Cloning, Molecular; DNA, Complementary/genetics; Disorders of Sex Development/embryology; Humans; Isoenzymes/deficiency; Male; Molecular Sequence Data; Mutagenesis, Site-Directed; Organ Specificity; Phenotype; Sequence Alignment; Sequence Homology, Amino Acid; Testis/embryology; Testosterone/biosynthesis; Testosterone/deficiency

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Database: MEDLINE Main subject: Disorders of Sex Development / Testis / Point Mutation / 17-Hydroxysteroid Dehydrogenases / Isoenzymes Language: En Journal: Nat Genet Year: 1994 Type: Article

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