Case Report: Identification of a Novel Heterozygous Missense Mutation in <i>COL4A3</i> Gene Causing Variable Phenotypes in an Autosomal-Dominant Alport Syndrome Family.

导出 LinkOut

翻译打印收藏纠错

作者： Yanglin,Hu ^[1] ; Wei,Li ^[2] ; Lulu,Tian ^[3] ; Shuai,Fu ^[1] ; Yonglong,Min ^[1] ; Jia,Liu ^[1] ; Fei,Xiong ^[1]

作者单位： Department of Nephrology, Wuhan No.1 Hospital, Wuhan, China. ^[1] Department of Endocrinology, Wuhan No.1 Hospital, Wuhan, China. ^[2] Department of Blood Purification, Central Theater General Hospital, Wuhan, China. ^[3]

关键词 Alport syndrome COL4A3 collagen type IV human genetics next-generation sequencing novel variant whole-exome sequencing

DOI 10.3389/fgene.2022.839212

PMID 35422838

发布时间 2022-04-23

翻译满意度评价：

准确一般字义偏差语意偏离译文作用小提交

浏览0

Frontiers in genetics

2022年13卷

839212页

相似文献

中文期刊
外文期刊
学位论文
会议论文

检索历史清除

Case Report: Identification of a Novel Heterozygous Missense Mutation in <i>COL4A3</i> Gene Causing Variable Phenotypes in an Autosomal-Dominant Alport Syndrome Family.

Frontiers in genetics

相似文献

Frontiers in genetics

相关期刊

参考文献：
指定格式：	NoteExpress EndNote RefWorks NoteFirst

检索历史 清除

Case Report: Identification of a Novel Heterozygous Missense Mutation in <i>COL4A3</i> Gene Causing Variable Phenotypes in an Autosomal-Dominant Alport Syndrome Family.

Frontiers in genetics

相似文献

Frontiers in genetics

相关期刊

检索历史清除