Article
[Identification and 3D architecture analysis of the LIPC gene mutation in a pedigree with familial hypercholesterolemia-like phenotype].
Zhonghua xin xue guan bing za zhi - 24 Jul 2023
Zhang H, Li F Y, Hao Y, Wang X M, Zhang J, Ma Y L, Zeng H, Lin J
Abstract excerpt
Objective: To identify and analyze 3D architecture of the mutational sites of susceptible genes in a pedigree with familial hypercholesterolemia-like phenotype (FHLP). Methods: This is a case series study. A pedigree with suspected familial hypercholesterolemia was surveyed. The proband admitted in Beijing Anzhen Hospital in April 2019. Whole-exome sequencing was performed to determine the mutational sites of...
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