Identification of Novel Mutations in the Ortholog ofDrosophilaEyes Shut Gene (EYS) Causing Autosomal Recessive Retinitis Pigmentosa
Investigative Ophthalmology & Visual Science2010Vol. 51(8), pp. 4266–4266
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Mai M. Abd El-Aziz, C. O'Driscoll, Rebecca S. Kaye, Isabel Barragán, Mohamed F. El-Ashry, Salud Borrego, Guillermo Antiñolo, Chi Pui Pang, Andrew R. Webster, Shomi S. Bhattacharya
Abstract
This is the first report of molecular genetic analysis of EYS in a cohort of unrelated British and Chinese patients with RP. The results further the initial hypothesis that EYS is a major causative gene for recessive RP and emphasize the role of different types of mutations in disrupting the function of EYS.
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