Case Report: Identification of a Novel Heterozygous Missense Mutation in COL4A3 Gene Causing Variable Phenotypes in an Autosomal-Dominant Alport Syndrome Family
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DOI: 10.3389/fgene.2022.839212
Abstract: Alport syndrome (AS) is a genetic kidney disease of basement membrane collagen disorder accounting for approximately 2% of ESRD patients. Next-generation and whole-exome sequencing methods are increasingly frequently used as an efficient tool not only… read more here.
Keywords: col4a3; mutation col4a3; missense mutation; heterozygous missense ... See more keywords