Article
Phenotype of an X-linked retinitis pigmentosa family with a novel splice defect in the RPGR gene.
Investigative ophthalmology & visual science - 1 Nov 1998
Bauer S, Fujita R, Buraczynska M, Abrahamson M, Ehinger B, Wu W, Falls T J, Andréasson S, Swaroop A
Abstract excerpt
PURPOSE: To assess the clinical phenotype in a Swedish family with X-linked retinitis pigmentosa (XLRP) resulting from a novel splice defect in the RPGR gene. METHODS: RPGR mutation analysis was performed in one family with XLRP, and several individuals from the family were examined clinically. R...
Topics
- Carrier Proteins
- DNA Primers
- Electroretinography
- Eye Proteins
- Female
- Genetic Linkage
- Humans
- Male
- Middle Aged
- Pedigree
- Phenotype
- Point Mutation
- RNA Splicing
- Retinitis Pigmentosa
- Reverse Transcriptase Polymerase Chain Reaction
- Sequence Analysis, DNA
- Sequence Deletion
- Visual Field Tests