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» Novel intronic mutation in the COL4A5 gene reported in Alport syndrome
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Biomarkers
Novel intronic mutation in the COL4A5 gene reported in Alport syndrome
Nov. 18, 2022
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Alport syndrome (AS) is a hereditary disease affecting type IV collagen that is caused – in 80% of cases – by the COL4A5 gene. In 10% to 20% of AS cases, a mutation cannot be detected.
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