Article
Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome.
Nature genetics - 1 Sept 1994
Mochizuki T, Lemmink H H, Mariyama M, Antignac C, Gubler M C, Pirson Y, Verellen-Dumoulin C, Chan B, Schröder C H, Smeets H J
Abstract excerpt
Alport syndrome (AS) is an hereditary disease of basement membranes characterized by progressive renal failure and deafness. Changes in the glomerular basement membrane (GBM) in AS suggest that the type IV collagen matrix, the major structural component of GBM, is disrupted. We recently isolated...
Topics
- Adolescent
- Amino Acid Sequence
- Base Sequence
- Child
- Chromosomes, Human, Pair 2
- Collagen
- Female
- Genes, Recessive
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Nephritis, Hereditary
- Pedigree