Title : Spectrum of DHCR7 mutations in Slovak patients with Smith-Lemli-Opitz syndrome and detection of common mutations by PCR-based assays.

Pub. Date : 2009 Mar

PMID : 19390132






1 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 Mutations in the DHCR7 gene lead to a 7-dehydrocholesterol reductase deficiency, which is the final enzyme in the pathway of the cholesterol biosynthesis. Cholesterol 7-dehydrocholesterol reductase Homo sapiens