Mutations in C2ORF71 Cause Autosomal-Recessive Retinitis Pigmentosa

With a worldwide prevalence of 1 in 4,000, retinitis pigmentosa (RP) is the most common form of hereditary retinal degeneration. More than 30 genes and loci have been implicated in nonsyndromic autosomal-recessive (ar) RP. Genome-wide homozygosity mapping was conducted in one Dutch and one Israeli f...

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Veröffentlicht in:	American journal of human genetics 2010-05, Vol.86 (5), p.783-788
Hauptverfasser:	Collin, Rob W.J., Safieh, Christine, Littink, Karin W., Shalev, Stavit A., Garzozi, Hanna J., Rizel, Leah, Abbasi, Anan H., Cremers, Frans P.M., den Hollander, Anneke I., Klevering, B. Jeroen, Ben-Yosef, Tamar
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals Biological and medical sciences Chromosome Mapping DNA Mutational Analysis Eye diseases Eye Proteins - genetics Fundamental and applied biological sciences. Psychology Gene expression Gene loci General aspects. Genetic counseling Genetic disorders Genetics Genetics of eukaryotes. Biological and molecular evolution Haplotypes Homozygote Humans Medical genetics Medical sciences Mice Microsatellite Repeats Molecular and cellular biology Mutation Mutation, Missense Ophthalmology Proteins - genetics Retina Retina - metabolism Retinitis Pigmentosa - genetics Retinopathies Reverse Transcriptase Polymerase Chain Reaction
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