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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 femal...

Topics

3-Hydroxysteroid Dehydrogenases
Amino Acid Sequence
Antigenic Variation
Base Sequence
Epitope Mapping
Gene Expression Regulation, Enzymologic
Genetic Linkage
Genetic Variation
Humans
Molecular Sequence Data
Multigene Family

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Polymorphism, Genetic

Source

Identifiers

PMID: 7588414
DOI: 10.3109/07435809509030466

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7588414-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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