The genetic spectrum of familial hypercholesterolemia in Pakistan.

Waqas Ahmed,Ros Whittall,Moeen Riaz,Muhammad Ajmal,Ahmed Sadeque,Humaira Ayub, Raheel Qamar,Steve E Humphries

Clinica Chimica Acta（2013）

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摘要

•We examined the LDLR/PCSK9 genes in patients with FH from Pakistan.•Two novel LDLR mutations both showed co-segregation with hypercholesterolemia.•Two novel PCSK9 variations were found one of which was a loss of function mutation.•This brings to 7 the number of molecular causes of FH in patients from Pakistan.

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关键词

Familial hypercholesterolemia,LDLR,PCSK9,Xanthomas,HRM,Consanguinity

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