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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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Detalles Bibliográficos
Autores principales:	Xiu, Xiaofei, Yuan, Jinzhong, Deng, Xiong, Xiao, Jingjing, Xu, Hongbo, Zeng, Zhaoyang, Guan, Liping, Xu, Fengping, Deng, Sheng
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi Publishing Corporation 2014
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4109303/ https://www.ncbi.nlm.nih.gov/pubmed/25110662 http://dx.doi.org/10.1155/2014/186048

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