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Article

Molecular genetics of 3beta-hydroxy-Delta5-C27-steroid oxidoreductase deficiency in 16 patients with loss of bile acid synthesis and liver disease.

The Journal of clinical endocrinology and metabolism - 1 Apr 2003

Cheng Jeffrey B, Jacquemin Emmanuel, Gerhardt Marie, Nazer Hisham, Cresteil Danièle, Heubi James E, Setchell Kenneth D R, Russell David W

Abstract excerpt

The 3beta-hydroxy-Delta(5)-C(27)-steroid oxidoreductase (C(27) 3beta-HSD) is a membrane-bound enzyme of the endoplasmic reticulum that catalyzes an early step in the synthesis of bile acids from cholesterol. Subjects with autosomal recessive mutations in the encoding gene, HSD3B7, on chromosome 1...

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Source

Identifiers

PMID: 12679481
DOI: 10.1210/jc.2002-021580

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12679481-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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