Article
Analysis of low-density lipoprotein receptor gene mutations in a family with familial hypercholesterolemia.
PloS one - 1 Jan 2024
Hu Ya-Nan, Wu Min, Yu Hong-Ping, Wu Qiu-Yan, Chen Ying, Zhang Jian-Hui, Ruan Dan-Dan, Zhang Yan-Ping, Zou Jing, Zhang Li, Lin Xin-Fu, Fang Zhu-Ting, Liao Li-Sheng, Lin Fan, Li Hong, Luo Jie-Wei
Abstract excerpt
BACKGROUND: Familial hypercholesterolemia (FH) is a common monogenic autosomal dominant disorder, primarily mainly caused by pathogenic mutations in the low-density lipoprotein receptor (LDLR) gene. Through phenotypic-genetic linkage analysis, two LDLR pathogenic mutations were identified in FH families: c.G1027A (p.Gly343Ser) and c.G1879A (p.Ala627Thr). MATERIALS AND METHODS: Whole exome sequencing was conducted...
Topics
- Humans
- Receptors, LDL
- Hyperlipoproteinemia Type II
- Female
- Male
- Pedigree
- HEK293 Cells
- Mutation
- Adult
- Middle Aged
- Exome Sequencing