Deciphering the pathogenicity of COL4A4 heterozygous splicing mutations and the genotypephenotype correlation in autosomal dominant Alport syndrome  

作　　者：戴选彤 DAI Xuantong(Renal Div,Dept Intern Med,Xinhua Hosp,Shanghai Jiaotong Univ Med Sch,Shanghai 200092)

机构地区：[1]Renal Div,Dept Intern Med,Xinhua Hosp,Shanghai Jiaotong Univ Med Sch,Shanghai 200092

出　　处：《China Medical Abstracts(Internal Medicine)》2023年第2期114-115,共2页中国医学文摘（内科学分册（英文版）

摘　　要：Objective Through the investigation of the pathogenicity of COL4A4 heterozygous splicing mutations and the genotype-phenotype correlation in autosomal dominant Alport syndrome(ADAS),to better understand the impact of COL4A4 heterozygous splicing mutations on ADAS.Methods The study was a case series analysis.Patients from 5 ADAS families with COL4A4 heterozygous splicing mutations detected by whole exome sequencing were recruited by three hospitals.

关 键 词：ADAS COL autosomal 

分 类 号：R692[医药卫生—泌尿科学]