Linkage analysis and a novel COL4A5 mutation in a large Turkish family with Alport syndrome.


BACKGROUND Alport syndrome (AS) is a renal disease that is characterized by proteinuria and progressive renal failure, and often accompanied by sensorineural hearing loss and ocular changes. Mutations in the genes encoding for three members of the type IV collagen protein family have been found to be the cause of the disease. We describe a large Turkish… (More)


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