Article
Application of a high-throughput genotyping method for loci exclusion in non-consanguineous Australian pedigrees with autosomal recessive retinitis pigmentosa.
Molecular vision - 1 Jan 2012
Paterson Rachel L, De Roach John N, McLaren Terri L, Hewitt Alex W, Hoffmann Ling, Lamey Tina M
Abstract excerpt
PURPOSE: Retinitis pigmentosa (RP) is the most common form of inherited blindness, caused by progressive degeneration of photoreceptor cells in the retina, and affects approximately 1 in 3,000 people. Over the past decade, significant progress has been made in gene therapy for RP and related diseases, making genetic characterization increasingly important. Recently, high-throughput technologies have provided an...
Topics
- Australia
- Case-Control Studies
- Extracellular Matrix Proteins
- Eye Proteins
- Female
- Genes, Recessive
- Genetic Linkage
- Genetic Loci
- Genotyping Techniques
- Haplotypes
- Humans
- Male
- Membrane Proteins