Rapid identification of Smith-Lemli-Opitz syndrome homozygotes and heterozygotes (carriers) by measurement of deficient 7-dehydrocholesterol-delta 7-reductase activity in fibroblasts.

Metabolism: clinical and experimental

Shefer S, Salen G, Honda A, Batta A, Hauser S, Tint GS, Honda M, Chen T, Holick MF, Nguyen LB. Rapid identification of Smith-Lemli-Opitz syndrome homozygotes and heterozygotes (carriers) by measurement of deficient 7-dehydrocholesterol-delta 7-reductase activity in fibroblasts. Metabolism. 1997 Jul; 46(7):844-50.

1997

http://profiles.ucsf.edu/profile/207651518

9225842

Shefer S, Salen G, Honda A, Batta A, Hauser S, Tint GS, Honda M, Chen T, Holick MF, Nguyen LB

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Rapid identification of Smith-Lemli-Opitz syndrome homozygotes and heterozygotes (carriers) by measurement of deficient 7-dehydrocholesterol-delta 7-reductase activity in fibroblasts.