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The Contribution of COL4A5 Splicing Variants to the Pathogenesis of X-Linked Alport Syndrome

8 Feb 2022

Abstract excerpt

X-linked Alport syndrome (XLAS) is caused by pathogenic variants in COL4A5 and is characterized by progressive kidney disease, hearing loss, and ocular abnormalities. Recent advances in genetic analysis and further understanding of genotype-phenotype correlations in affected male patients raises the importance of detecting splicing variants in COL4A5 . Aberrant splicing of COL4A5 is caused not only by canonical...

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PMID: 35211492
DOI: 10.3389/fmed.2022.841391

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The Contribution of COL4A5 Splicing Variants to the Pathogenesis of X-Linked Alport SyndromePMID 35211492Read ↗

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