Article
Aberrant splicing of the COL4A5 gene in patients with Alport syndrome.
Human molecular genetics - 1 Feb 1994
Lemmink H H, Kluijtmans L A, Brunner H G, Schröder C H, Knebelmann B, Jelínková E, van Oost B A, Monnens L A, Smeets H J
Abstract excerpt
A variety of mutations have been identified in the X-linked type IV collagen alpha 5 chain (COL4A5) gene in patients with Alport syndrome. A substantial number of these mutations were predicted to have an effect on RNA splicing. For 4 such mutations in our group of patients the effect of the DNA...
Topics
- Base Sequence
- Collagen
- Exons
- Female
- Frameshift Mutation
- Gene Expression Regulation
- Heterozygote
- Humans
- Introns
- Male
- Molecular Sequence Data
- Mutation