Impact of variants of uncertain significance of LDL receptor on phenotypes of familial hypercholesterolemia

Hayato Tada,Nobuko Kojima,Kan Yamagami,Akihiro Nomura,Atsushi Nohara,Soichiro Usui,Kenji Sakata,Kenshi Hayashi,Noboru Fujino,Masayuki Takamura,Masa-aki Kawashiri

Journal of Clinical Lipidology（2022）

引用 2|浏览5

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摘要

•Pathogenic variants are associated with higher risk for CVD among FH patients.•LDL cholesterol level differs according to types of variants among FH patients.•VUS was significantly associated with poor outcomes in FH patients.

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关键词

Familial hypercholesterolemia1,LDL cholesterol2,Genetics3,LDL receptor4,Protein-truncating variant5

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