A novel COL4A5 splicing mutation causes alport syndrome in a Chinese family
Abstract Background Alport syndrome (AS) is characterised by haematuria, proteinuria, a gradual decline in kidney function, hearing loss, and eye abnormalities. The disease is caused by mutations in COL4An (n = 3, 4, 5) that encodes 3-5 chains of type IV collagen in the glomerular basement membrane....
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| Main Authors: | , , , , , |
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| Format: | Book |
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BMC,
2024-04-01T00:00:00Z.
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