Article
Screening and verifying the mutations in the LDLR and APOB genes in a Chinese family with familial hypercholesterolemia.
Lipids in health and disease - 18 Oct 2023
Lv Xian, Wang Chunyue, Liu Lu, Yin Guoqing, Zhang Wen, Abdu Fuad A, Shi Tingting, Zhang Qingfeng, Che Wenliang
Abstract excerpt
BACKGROUND: Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder. The primary objective of this study was to identify the major pathogenic mutations in a Chinese family with FH. METHODS: Whole-genome sequencing (WGS) was used to identify variants of FH-related genes, including low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), and proprotein convertase subtilisin/kexin 9...
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