APOE 和家族性高胆固醇血症。

IF 3.8 3区医学 Q2 BIOCHEMISTRY & MOLECULAR BIOLOGY

Current opinion in lipidology Pub Date : 2024-04-17 DOI:10.1097/mol.0000000000000937

Fernando Civeira, César Martín, Ana Cenarro

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引用次数: 0

摘要

常染色体显性高胆固醇血症是心血管疾病的常见病因。除了导致高胆固醇血症的经典基因 LDLR、APOB 和 PCSK9 外，一个新的基因位点已成为导致这种高脂血症的候选基因，即 APOE 基因中的 p.(Leu167del) 突变。

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APOE and familial hypercholesterolemia.

Autosomal dominant hypercholesterolemia is a common cause of cardiovascular disease. In addition to the classic genes that cause hypercholesterolemia, LDLR, APOB and PCSK9, a new locus has emerged as a candidate to be the cause of this hyperlipidemia, the p.(Leu167del) mutation in the APOE gene.

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来源期刊

Current opinion in lipidology 医学-内分泌学与代谢

CiteScore

6.70

自引率

4.50%

发文量

审稿时长

6-12 weeks

期刊介绍： With its easy-to-digest reviews on important advances in world literature, Current Opinion in Lipidology offers expert evaluation on a wide range of topics from six key disciplines including nutrition and metabolism, genetics and molecular biology, and hyperlipidaemia and cardiovascular disease. Published bimonthly, each issue covers in detail the most pertinent advances in these fields from the previous year. This is supplemented by a section of Bimonthly Updates, which deliver an insight into new developments at the cutting edge of the disciplines covered in the journal.