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Last Nucleotide Substitutions of COL4A5 Exons Cause Aberrant Splicing

22 Oct 2021

Abstract excerpt

Introduction COL4A5 is a causative gene of X-linked Alport syndrome (XLAS). Male patients with XLAS with nonsense variants have the most severe phenotypes of early onset end-stage kidney disease (ESKD); those with splicing variants have middle phenotypes and those with missense variants have the mildest phenotypes. Therefore, genotyping for male patients with XLAS can be used to predict kidney prognosis....

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PMID: 35005319
DOI: 10.1016/j.ekir.2021.10.012

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Last Nucleotide Substitutions of COL4A5 Exons Cause Aberrant SplicingPMID 35005319Read ↗

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