Screening and verifying the mutations in the LDLR and APOB genes in a Chinese family with familial hypercholesterolemia

Screening and verifying the mutations in the LDLR and APOB genes in a Chinese family with familial hypercholesterolemia

Abstract 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, i...

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Bibliographic Details
Main Authors: Xian Lv, Chunyue Wang, Lu Liu, Guoqing Yin, Wen Zhang, Fuad A. Abdu, Tingting Shi, Qingfeng Zhang, Wenliang Che
Format: Article
Language:English
Published: BMC 2023-10-01
Series:Lipids in Health and Disease
Subjects:
Familial hypercholesterolemia
LDLR
APOB
Pathogenic mutation
PCSK9 inhibitor
Online Access:https://doi.org/10.1186/s12944-023-01935-8

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