Copy-Number Variations inEYS:A Significant Event in the Appearance of arRP
Investigative Ophthalmology & Visual Science2011Vol. 52(8), pp. 5625–5625
Citations Over TimeTop 19% of 2011 papers
Juan I. Pieras, Isabel Barragán, Salud Borrego, Isabelle Audo, María González‐del Pozo, Sara Bernal, Montserrat Baiget, Christina Zeitz, Shomi S. Bhattacharya, Guillermo Antiñolo
Abstract
This is the first report of a systematic CNV screening of EYS gene in a cohort of arRP patients. Results suggest that midsized genomic rearrangements in EYS gene would be a common event in the appearance of RP phenotype. An efficient and cost-effective strategy validating a novel MLPA kit as a complementary diagnostic method for EYS pathogenic evaluation has been demonstrated.
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