A Nonsense Mutation in COL4A4 Gene Causing Isolated Hematuria in Either Heterozygous or Homozygous State

A Nonsense Mutation in COL4A4 Gene Causing Isolated Hematuria in Either Heterozygous or Homozygous State

Alport syndrome (AS) is a hereditary nephropathy characterized by glomerular basement membrane lesions. AS shows a relatively rare entity with autosomal dominant gene mutation (accounts for less than 5% of AS cases) and is widely believed to be a consequence of heterozygous variants in the COL4A3 an...

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Bibliographic Details
Main Authors: Cheng Yang, Yuan Song, Zhaowei Chen, Xiaohan Yuan, Xinhua Chen, Guohua Ding, Yang Guan, Mary McGrath, Chunhua Song, Yongqing Tong, Huiming Wang
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-07-01
Series:Frontiers in Genetics
Subjects:
human genetics
collagen type IV
Alport syndrome
COL4A4
genomic variant
hereditary nephropathy
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2019.00628/full

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https://www.frontiersin.org/article/10.3389/fgene.2019.00628/full

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