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Article

A novel mutation of the human 7-dehydrocholesterol reductase gene reduces enzyme activity in patients with holoprosencephaly.

Biochemical and biophysical research communications - 27 Feb 2004

Shim Yhong-Hee, Bae Soo-Han, Kim Jai-Hyun, Kim Kyu-Rae, Kim Chong Jai, Paik Young-Ki

Abstract excerpt

Defects in cholesterol biosynthesis genes are recognized as a leading cause for holoprosencephaly (HPE). Previous reports suggest that mutations of human 7-dehydrocholesterol reductase (Dhcr7), which catalyzes the final step of cholesterol biosynthesis, may cause HPE [Clin. Genet. 53 (1998) 155]. To determine whether Dhcr7 mutations are involved in HPE pathogenesis, we analyzed the sequence of exon 9, which...

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PMID: 15013448
DOI: 10.1016/j.bbrc.2004.01.041

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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