Article
A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers.
Investigative ophthalmology & visual science - 1 Dec 2004
Kondo Hiroyuki, Qin Minghui, Mizota Atsushi, Kondo Mineo, Hayashi Hideyuki, Hayashi Ken, Oshima Kenji, Tahira Tomoko, Hayashi Kenshi
Abstract excerpt
PURPOSE: To identify possible mutations in known candidate genes in patients with autosomal recessive (ar) and simplex retinitis pigmentosa (RP), by using an established strategy of flexible, multiplexed, microsatellite-based homozygosity mapping. METHODS: A total of 78 microsatellite markers corresponding to 16 genes known to be responsible for arRP were selected and used in 18 multiplex amplifications, followed...
Topics
- Adult
- Aged
- Asian People
- Base Sequence
- Carrier Proteins
- Chromosome Mapping
- Cyclic Nucleotide-Gated Cation Channels
- Eye Proteins
- Female
- Genes, Recessive
- Homozygote
- Humans
- Ion Channels