Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis

标题
Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis
作者
关键词
FDFT1, cholesterol biosynthesis, syndactyly, dysmorphism
出版物
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 103, Issue 1, Pages 125-130
出版商
Elsevier BV
发表日期
2018-06-14
DOI
10.1016/j.ajhg.2018.05.004

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