Article
Autosomal recessive Alport syndrome: immunohistochemical study of type IV collagen chain distribution.
Kidney international - 1 Apr 1995
Gubler M C, Knebelmann B, Beziau A, Broyer M, Pirson Y, Haddoum F, Kleppel M M, Antignac C
Abstract excerpt
Alport syndrome (AS) is an hereditary disease of basement membrane collagen. It is mainly transmitted as a dominant X-linked trait and caused by mutations in the COL4A5 gene encoding the alpha 5 chain of type IV collagen. However, autosomal recessive AS due to mutations in the COL4A3 or COL4A4 ge...
Topics
- Adolescent
- Adult
- Antibodies, Monoclonal
- Basement Membrane
- Biopsy
- Child
- Collagen
- Family Health
- Female
- Fluorescent Antibody Technique
- Humans
- Immunohistochemistry
- Kidney Glomerulus
- Male
- Mutation
- Nephritis, Hereditary
- Pedigree
- Skin