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Article

Inborn errors of sterol biosynthesis.

Annual review of genomics and human genetics - 1 Jan 2001

Kelley R I, Herman G E

Abstract excerpt

The known disorders of cholesterol biosynthesis have expanded rapidly since the discovery that Smith-Lemli-Opitz syndrome is caused by a deficiency of 7-dehydrocholesterol. Each of the six now recognized sterol disorders-mevalonic aciduria, Smith-Lemli-Opitz syndrome, desmosterolosis, Conradi-Hün...

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Identifiers

PMID: 11701653
DOI: 10.1146/annurev.genom.2.1.299

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-11701653-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

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

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