Title : Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.

Pub. Date : 1998 Jul

PMID : 9634533






1 Functional Relationships(s)
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Protein Name
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1 SLOS fibroblasts transfected with human sterol Delta7-reductase cDNA showed a significant reduction in 7-DHC levels, compared with those in SLOS fibroblasts transfected with the vector alone. 7-dehydrocholesterol 7-dehydrocholesterol reductase Homo sapiens