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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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Bibliografiske detaljer
Udgivet i:Mol Genet Genomic Med
Main Authors: Zhao, Xuechao, Chen, Chen, Wei, Yanfu, Zhao, Ganye, Liu, Lina, Wang, Conghui, Zhang, Junjun, Kong, Xiangdong
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2019
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6565573/
https://ncbi.nlm.nih.gov/pubmed/30968591
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.653
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