A novel COL4A5 splicing mutation causes alport syndrome in a Chinese family

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...
Source: BMC Medical Genomics - Category: Genetics & Stem Cells Authors: Tags: Research Source Type: research