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

Pubmed ID: 
29909962
Year: 
2018
Month: 
Jul
Volume: 
103
Issue: 
1
Citation: 
Coman D, Vissers LELM, Riley LG, Kwint MP, Hauck R, Koster J, Geuer S, Hopkins S, Hallinan B, Sweetman L, Engelke UFH, Burrow TA, Cardinal J, McGill J, Inwood A, Gurnsey C, Waterham HR, Christodoulou J, Wevers RA, Pitt J. Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis. American Journal of Human Genetics 103 (1) : 125 - 130(2018) PubMed