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Mutations in C2ORF71 Cause Autosomal-Recessive Retinitis Pigmentosa

✍ Scribed by Rob W.J. Collin; Christine Safieh; Karin W. Littink; Stavit A. Shalev; Hanna J. Garzozi; Leah Rizel; Anan H. Abbasi; Frans P.M. Cremers; Anneke I. den Hollander; B. Jeroen Klevering; Tamar Ben-Yosef


Book ID
113422833
Publisher
American Society of Human Genetics
Year
2010
Tongue
English
Weight
715 KB
Volume
86
Category
Article
ISSN
0002-9297

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Retinitis pigmentosa is an inherited progressive disease which is a major cause of blindness in western communities. It can be inherited as an autosomal dominant, autosomal recessive, or X-linked recessive disorder. In the autosomal dominant form (adRP), which comprises about 25% of total cases, app