Mutations in the Human Sterol Δ7-Reductase Gene at 11q12-13 Cause Smith-Lemli-Opitz Syndrome

Christopher A. Wassif(National Institutes of Health), Cheryl L. Maslen(Diabetes Australia), Stivelia Kachilele-Linjewile(National Institutes of Health), Don S. Lin(Diabetes Australia), Leesa M. Linck(Oregon Health & Science University), William E. Connor(Diabetes Australia), Robert D. Steiner(Oregon Health & Science University), Forbes D. Porter(National Institutes of Health)
The American Journal of Human Genetics
July 1, 1998
Cited by 423Open Access
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