Article
Mutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa.
Investigative ophthalmology & visual science - 1 Mar 2007
Waseem Naushin H, Vaclavik Veronika, Webster Andrew, Jenkins Sharon A, Bird Alan C, Bhattacharya Shomi S
Abstract excerpt
PURPOSE: Retinitis pigmentosa is a clinically and genetically heterogeneous disorder. It is characterized by progressive degeneration of the peripheral retina, leading to night blindness and loss of the peripheral visual field. PRPF31 is one of four pre-mRNA splicing factors identified as causing autosomal dominant retinitis pigmentosa, with incomplete penetrance being the unique feature associated with mutations...
Topics
- Adolescent
- Adult
- Age of Onset
- Aged
- DNA Mutational Analysis
- Eye Proteins
- Female
- Genes, Dominant
- Genotype
- Humans
- Male
- Middle Aged
- Mutation
- Pedigree
- Phenotype