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

作     者：张航 ZHANC Hang

作者机构：Dept AtherosclBeijing Anzhen HospCapital Med UnivBeijing Instit HeartLung and Blood Vessel DisBeijing 100029 

出 版 物：《China Medical Abstracts(Internal Medicine)》 (中国医学文摘（内科学分册（英文版）)

年 卷 期：2023年第40卷第3期

页      面：157-158页

学科分类：1002[医学-临床医学] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 10[医学] 

主　　题：admitted familial Whole 

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