Novel mutations of COL4A3, COL4A4, and COL4A5 genes in Chinese patients with Alport Syndrome using next generation sequence technique

BACKGROUND: Alport syndrome (AS) is an inherited progressive renal disease caused by mutations in COL4A3, COL4A4, and COL4A5 genes. The large sizes of these genes and the absence of mutation hot spots have complicated mutational analysis by routine PCR‐based approaches. In recent years, the developm...

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Detalles Bibliográficos
Autores principales: Zhao, Xuechao, Chen, Chen, Wei, Yanfu, Zhao, Ganye, Liu, Lina, Wang, Conghui, Zhang, Junjun, Kong, Xiangdong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6565573/
https://www.ncbi.nlm.nih.gov/pubmed/30968591
http://dx.doi.org/10.1002/mgg3.653

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