Article
Identification of four novel mutations in the COL4A5 gene of patients with Alport syndrome.
Genomics - 1 Aug 1993
Lemmink H H, Schröder C H, Brunner H G, Nelen M R, Zhou J, Tryggvason K, Haagsma-Schouten W A, Roodvoets A P, Rascher W, van Oost B A
Abstract excerpt
The type IV collagen alpha 5 chain (COL4A5) genes of patients with Alport syndrome were tested for major gene rearrangements by Southern blot analysis, using COL4A5 cDNA clones as probes. In addition, individual exons were screened for small mutations by single-strand conformation polymorphism (S...
Topics
- Amino Acid Sequence
- Animals
- Base Sequence
- Collagen
- Exons
- Female
- Humans
- Molecular Sequence Data
- Nephritis, Hereditary
- Oligodeoxyribonucleotides
- Phenotype
- Point Mutation
- Polymerase Chain Reaction
- Reference Values
- Sequence Homology, Amino Acid