Identification and 3D architecture analysis of the LIPC gene mutation in a pedigree with familial hypercholesterolemia-like phenotype  

作　　者：张航 ZHANC Hang(Dept Atheroscl,Beijing Anzhen Hosp,Capital Med Univ,Beijing Instit Heart,Lung and Blood Vessel Dis,Beijing 100029)

机构地区：[1]Dept Atheroscl,Beijing Anzhen Hosp,Capital Med Univ,Beijing Instit Heart,Lung and Blood Vessel Dis,Beijing 100029

出　　处：《China Medical Abstracts(Internal Medicine)》2023年第3期157-158,共2页中国医学文摘（内科学分册（英文版）

摘　　要：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 was admitted in Beijing Anzhen Hospital in April 2019.Whole-exome sequencing was performed to determine the mutational sites of susceptible genes in the proband.Polymerase chain reaction(PCR)sequencing was used to verify the pathogenic variant on proband’s relatives.

关 键 词：admitted FAMILIAL WHOLE 

分 类 号：R589.2[医药卫生—内分泌]