Article
Relationship between COL4A5 gene mutation and distribution of type IV collagen in male X-linked Alport syndrome. Japanese Alport Network.
Kidney international - 1 Jul 1996
Naito I, Kawai S, Nomura S, Sado Y, Osawa G
Abstract excerpt
The renal immunohistochemical distribution of collagen IV chains was studied with a monoclonal antibody series recognizing the alpha 1(IV) to alpha 6(IV) chains in nine males with X-linked Alport syndrome whose COL4A5 mutation had been already identified. Two patients had a deletional mutation, six patients had a missense mutation and one patient had a splicing site mutation. The alpha 3(IV) to alpha 6(IV) chains...
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