Variants in Genome-Wide Association Studies of Coronary Artery Diseases: Loss-of-Function or Gain-of-Function?
作者信息
Zhang Hanrui, Reilly Muredach P
机构信息
From the Division of Cardiology, Department of Medicine, Columbia University Medical Center, New York (H.Z., M.P.R.); and Irving Institute for Clinical and Translational Research, Columbia University, New York (M.P.R.).
出版信息
Arterioscler Thromb Vasc Biol. 2017 Jun;37(6):1015-1017. doi: 10.1161/ATVBAHA.117.309344.
Abstract
摘要
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本文引用的文献
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Genetics of coronary artery disease: discovery, biology and clinical translation.冠状动脉疾病的遗传学：发现、生物学及临床转化
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Coronary Artery Disease-Associated Coding Variant rs1051338 Reduces Lysosomal Acid Lipase Levels and Activity in Lysosomes.冠心病相关编码变体rs1051338降低溶酶体酸性脂肪酶水平及溶酶体中的活性。
Arterioscler Thromb Vasc Biol. 2017 Jun;37(6):1050-1057. doi: 10.1161/ATVBAHA.116.308734. Epub 2017 Mar 9.
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Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study.接受sebelipase Alfa治疗的溶酶体酸性脂肪酶缺乏症婴儿的生存情况：一项开放标签、多中心、剂量递增研究。
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A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency.司贝前列素 α 在溶酶体酸性脂肪酶缺乏症中的 3 期临床试验。
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