Article
Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome.
Human molecular genetics - 1 Aug 1994
Lemmink H H, Mochizuki T, van den Heuvel L P, Schröder C H, Barrientos A, Monnens L A, van Oost B A, Brunner H G, Reeders S T, Smeets H J
Abstract excerpt
A group of 22 unrelated patients with sporadic or non-X-linked Alport syndrome were screened for mutations in the non-collagenous domain of the type IV collagen alpha 3 (COL4A3) chain gene. The five 3'-exons of this gene, located on chromosome 2qter, were tested by single strand conformation poly...
Topics
- Base Sequence
- Collagen
- Female
- Genes, Recessive
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Nephritis, Hereditary
- Pedigree
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational