Detection of Splicing Abnormalities and Genotype-Phenotype Correlation in X-linked Alport Syndrome.
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DOI: 10.1681/asn.2018030228
Abstract: BACKGROUND X-linked Alport syndrome (XLAS) is a progressive hereditary nephropathy caused by mutations in the COL4A5 gene. Genotype-phenotype correlation in male XLAS is relatively well established; relative to truncating mutations, nontruncating mutations exhibit milder phenotypes.… read more here.
Keywords: splicing abnormalities; genotype phenotype; phenotype correlation; linked alport ... See more keywords