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Article

Variation in the expression of human 3 beta-hydroxysteroid dehydrogenase.

Endocrine research - 1 Jan 2000

Russell A J, McCartin S, Corcao G, Burridge S M, McBride M W, McNicol A M, Hawes C S, Mason J I, Sutcliffe R G

Abstract excerpt

Polymorphic genetic variation shows that the genes for human 3 beta-hydroxysteroid dehydrogenases (3 beta-HSD) types I and II are closely linked. The type II mutations A82T, S100N and L173R are associated with male pseudohermaphroditism and A82T is associated, with variable penetrance, with female premature puberty. When expressed in vitro A82T showed less than 5% of normal activity and L173R showed a 30-50%...

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PMID: 7588414
DOI: 10.3109/07435809509030466

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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