Relationship between COL4A5 gene mutation and distribution of type IV collagen in male X-linked Alport syndrome. Japanese Alport Network.

doi:10.1038/ki.1996.316

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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, s...

Topics

Adolescent
Adult
Child
Child, Preschool
Collagen
Genetic Linkage
Humans
Immunohistochemistry
Kidney
Male
Mutation
Nephritis, Hereditary
X Chromosome

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