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

9 Apr 2019

Abstract excerpt

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 development of next-generation sequencing (NGS) has made possible the time- and cost-effective and accurate analysis of the...

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PMID: 30968591
DOI: 10.1002/mgg3.653

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