Article

Five novel mutations identified in the COL4A3, COL4A4 and COL4A5 genes in 10 families with Alport syndrome

2023-09-12

Abstract excerpt

<title>Abstract</title> <p>Background Alport syndrome (AS) is an inherited nephropathy caused by mutations in the type IV collagen genes. It is clinically characterized by damage to the eyes, ears and kidneys. Diagnosis of AS is hampered by its atypical clinical picture, particularly when the typical features, include persistent hematuria and microscopic changes in the glomerular basement membrane (GBM), are the...

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Literature Corpus work: a594b865-86a5-5f15-a27d-35124be38510
DOI: 10.21203/rs.3.rs-3326133/v1

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