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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Detalles Bibliográficos
Autores principales: Hu, Haochang, Shu, Tian, Ma, Jun, Chen, Ruoyu, Wang, Jian, Wang, Shuangshuang, Lin, Shaoyi, Chen, Xiaomin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8712701/
https://www.ncbi.nlm.nih.gov/pubmed/34970301
http://dx.doi.org/10.3389/fgene.2021.762587

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