Identification of a novel collagen type IV alpha-4 (COL4A4) mutation in a Chinese family with autosomal dominant Alport syndrome using exome sequencing

BACKGROUND & OBJECTIVES: Alport syndrome (AS) is an inherited disorder characterized by glomerulonephritis and end-stage renal disease (ESRD). The aim of this study was to identify the gene responsible for the glomerulopathy in a Chinese family with autosomal dominant AS using exome sequencing....

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Detalles Bibliográficos
Autores principales: Deng, Sheng, Xu, Hongbo, Yuan, Jinzhong, Xiao, Jingjing, Yuan, Lamei, Deng, Xiong, Guan, Liping, Zhu, Anding, Rong, Pengfei, Zhang, Jianguo, Deng, Hao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2016
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5206870/
https://www.ncbi.nlm.nih.gov/pubmed/27934798
http://dx.doi.org/10.4103/0971-5916.195026

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5206870/
https://www.ncbi.nlm.nih.gov/pubmed/27934798
http://dx.doi.org/10.4103/0971-5916.195026

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