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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...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: Haochang Hu, Tian Shu, Jun Ma, Ruoyu Chen, Jian Wang, Shuangshuang Wang, Shaoyi Lin, Xiaomin Chen
Format: Artigo
Sprache:Inglês
Veröffentlicht: Frontiers Media S.A. 2021-12-01
Schriftenreihe:Frontiers in Genetics
Schlagworte:
familial hypercholesterolemia
low-density lipoprotein cholesterol
low-density lipoprotein receptor
disease-causing mutations
function
Online-Zugang:https://www.frontiersin.org/articles/10.3389/fgene.2021.762587/full
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