Genetic analysis of familial hypercholesterolemia in Asian Indians: A single-center study.

Nitika Setia,Sireesha Movva,Prahlad Balakrishnan,Ishpreet K Biji,Jitendra Pal Singh Sawhney,Raman Puri,Anjali Arora,Ratna D Puri,Renu Saxena,Sanghamitra Mishra,Sanika Apte,Samarth Kulshrestha,Vedam Lakshmi Ramprasad,Ishwar C Verma

Journal of Clinical Lipidology（2020）

引用 9|浏览53

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摘要

•There is paucity of data on genetic studies of FH in Asian Indians.•100 unrelated cases with clinical suspicion of FH classified using modified DLCN.•Sanger sequencing of LDLR, PCSK9, 2 fragments of ApoB, and targeted lipid panel by NGS.•38 different disease-causing mutations (10 novel) identified in 47 unrelated cases.•Mutations identified in the study not reported before in Indians.

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关键词

Familial hypercholesterolemia,Asian Indians,Genetic analysis,LDLR,APOB,PCSK9,APOE

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