Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis
角鲨烯合酶缺乏症:胆固醇生物合成缺陷的临床、生化和分子特征
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2018.05.004
Coman, David; Vissers, Lisenka E L M; Riley, Lisa G; Kwint, Michael P; Hauck, Roxanna; Koster, Janet; Geuer, Sinje; Hopkins, Sarah; Hallinan, Barbra; Sweetman, Larry; Engelke, Udo F H; Burrow, T Andrew; Cardinal, John; McGill, James; Inwood, Anita; Gurnsey, Christine; Waterham, Hans R; Christodoulou, John; Wevers, Ron A; Pitt, James