Article
A deletion mutation in the 3' end of the alpha 5(IV) collagen gene in juvenile-onset Alport syndrome.
Journal of the American Society of Nephrology : JASN - 1 Mar 1994
Saito A, Sakatsume M, Yamazaki H, Ogata F, Hirasawa Y, Arakawa M
Abstract excerpt
Alport syndrome is a hereditary progressive glomerular basement membrane disorder in which juvenile-or adult-onset renal failure is often accompanied by sensorineural deafness and ocular abnormalities. Recently, mutations have been found in the type IV collagen alpha 5 chain gene in patients with...
Topics
- Base Sequence
- Blotting, Southern
- Child
- Collagen
- Electrophoresis, Gel, Pulsed-Field
- Gene Deletion
- Humans
- Male
- Molecular Probes
- Molecular Sequence Data
- Mutation
- Nephritis, Hereditary
- Polymerase Chain Reaction