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COL4A5 mutations causing X-linked Alport syndrome (XLAS) are frequently associated with absence of the α3, α4, α5 and α6 chains of type IV collagen from basement membranes and increased amounts of the α1(IV) and α2(IV) chains in glomerular basement membrane. Although many COL4A5 mutations have been described in XLAS, the mechanisms by which these mutations influence the basement membrane appearance...
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