Article
Glomerular expression of type IV collagen chains in normal and X-linked Alport syndrome kidneys.
The American journal of pathology - 1 Jun 2000
Heidet L, Cai Y, Guicharnaud L, Antignac C, Gubler M C
Abstract excerpt
Alport syndrome is an inherited nephropathy characterized by alterations of the glomerular basement membrane because of mutations in type IV collagen genes. COL4A5 mutations, causing X-linked Alport syndrome, frequently result in the loss of the alpha5 chains of type IV collagen in basement membranes. This is associated with the absence of the alpha3(IV) and alpha4(IV) chains and increased amounts of alpha1(IV)...
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