Novel mutations of COL4A3, COL4A4, and COL4A5 genes in Chinese patients with Alport Syndrome using next generation sequence technique
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DOI: 10.1002/mgg3.653
Abstract: 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… read more here.
Keywords: col4a5 genes; alport syndrome; mutations col4a3; col4a3 col4a4 ... See more keywords