Article
Alport syndrome, basement membranes and collagen.
Pediatric nephrology (Berlin, Germany) - 1 Sept 1990
Kashtan C E, Kleppel M M, Butkowski R J, Michael A F, Fish A J
Abstract excerpt
Alport syndrome, an inherited disorder of the kidney, eye and ear, has fascinated nephrologists, pathologists, and geneticists for nearly a century. With the recent application of molecular biochemical and genetic techniques, this mysterious disease has begun to yield some of its secrets. Alport syndrome can now be viewed as a generalized disorder of basement membranes that appears to result from mutations in an...
Topics
- Basement Membrane
- Collagen
- Genetic Linkage
- Humans
- Kidney Transplantation
- Mutation
- Nephritis
- Nephritis, Hereditary
- X Chromosome