A Novel COL4A5 Mutation Identified in a Chinese Han Family Using Exome Sequencing

Alport syndrome (AS) is a monogenic disease of the basement membrane (BM), resulting in progressive renal failure due to glomerulonephropathy, variable sensorineural hearing loss, and ocular anomalies. It is caused by mutations in the collagen type IV alpha-3 gene (COL4A3), the collagen type IV alph...

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Detalhes bibliográficos
Main Authors: Xiu, Xiaofei, Yuan, Jinzhong, Deng, Xiong, Xiao, Jingjing, Xu, Hongbo, Zeng, Zhaoyang, Guan, Liping, Xu, Fengping, Deng, Sheng
Formato: Artigo
Idioma:Inglês
Publicado em: Hindawi Publishing Corporation 2014
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4109303/
https://ncbi.nlm.nih.gov/pubmed/25110662
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2014/186048
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