Proof of the enzyme defect in the Smith-Lemliopitz syndrome (SLOS): Markedly decreased conversion of 7-dehydrocholesterol (7DHC) to cholesterol (CH) in cultured fibroblasts from homozygotes: A. Honda, [formula omitted], G Salen, AK Batta, S Shefer, T. Chen. Depts. of Medicine & Pathology, VA Medical Cntr, East Orange, NJ & UMDNJ-NJ Medical School, Newark, NJ

doi:10.1016/0016-5085(95)28643-8

Proof of the enzyme defect in the Smith-Lemliopitz syndrome (SLOS): Markedly decreased conversion of 7-dehydrocholesterol (7DHC) to cholesterol (CH) in cultured fibroblasts from homozygotes: A. Honda, [formula omitted], G Salen, AK Batta, S Shefer, T. Chen. Depts. of Medicine & Pathology, VA Medical Cntr, East Orange, NJ & UMDNJ-NJ Medical School, Newark, NJ

https://doi.org/10.1016/0016-5085(95)28643-8

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Journal: Gastroenterology

Publication Date: Apr 1, 1995

#Smith-Lemliopitz Syndrome #East Orange + Show 3 more

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Abstract

Proof of the enzyme defect in the Smith-Lemliopitz syndrome (SLOS): Markedly decreased conversion of 7-dehydrocholesterol (7DHC) to cholesterol (CH) in cultured fibroblasts from homozygotes: A. Honda, [formula omitted], G Salen, AK Batta, S Shefer, T. Chen. Depts. of Medicine & Pathology, VA Medical Cntr, East Orange, NJ & UMDNJ-NJ Medical School, Newark, NJ

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