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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Bibliographische Detailangaben
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: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2010
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Report
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2869006/
https://ncbi.nlm.nih.gov/pubmed/20398884
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.03.016
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