Two Novel Disease-Causing Mutations in the LDLR of Familial Hypercholesterolemia

Two Novel Disease-Causing Mutations in the LDLR of Familial Hypercholesterolemia

As an autosomal dominant disorder, familial hypercholesterolemia (FH) is mainly caused by pathogenic mutations in lipid metabolism-related genes. The aim of this study is to investigate the genetic mutations in FH patients and verify their pathogenicity. First of all, a pedigree investigation was co...

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Bibliographic Details
Main Authors: Haochang Hu, Tian Shu, Jun Ma, Ruoyu Chen, Jian Wang, Shuangshuang Wang, Shaoyi Lin, Xiaomin Chen
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-12-01
Series:Frontiers in Genetics
Subjects:
familial hypercholesterolemia
low-density lipoprotein cholesterol
low-density lipoprotein receptor
disease-causing mutations
function
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.762587/full

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https://www.frontiersin.org/articles/10.3389/fgene.2021.762587/full

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