Mutations in the 7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome
Author:
Publisher
Proceedings of the National Academy of Sciences
Subject
Multidisciplinary
Reference19 articles.
1. A newly recognized syndromeof multiple congenital anomalies
2. Defective Cholesterol Biosynthesis Associated with the Smith-Lemli-Opitz Syndrome
3. The SREBP Pathway: Regulation of Cholesterol Metabolism by Proteolysis of a Membrane-Bound Transcription Factor
4. Molecular cloning and expression of the human 7-sterol reductase
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