Article
Altered rep-1 expression due to substitution at position +3 of the IVS13 splice-donor site of the choroideremia (CHM) gene.
Current eye research - 1 Jul 1998
Beaufrère L, Rieu S, Hache J C, Dumur V, Claustres M, Tuffery S
Abstract excerpt
PURPOSE: To characterize the effect on mRNA splicing of a yet undescribed mutation located in intron 13 splice-donor sequence (IVS13 + 3A --> C) in the Rab-Escort-protein 1 gene of a patient with choroideremia. METHODS: The base substitution was firstly detected by the Single Strand conformation...
Topics
- Adaptor Proteins, Signal Transducing
- Adult
- Alkyl and Aryl Transferases
- Base Sequence
- Carrier Proteins
- Choroideremia
- Consensus Sequence
- DNA, Recombinant
- Exons
- Fluorescein Angiography
- Humans
- Male
- Mutation
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational
- RNA, Messenger
- Transcription, Genetic
- rab GTP-Binding Proteins