Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies NovelLCA5Mutations and New Genotype-Phenotype Correlations
Year: 2013
Type: article
Source: Human Mutation
DOI: 10.1002/humu.22467
Authors: Donna S. Mackay, Arundhati Dev Borman, Ruifang Sui, L. Ingeborgh van den Born, Eliot L. Berson, Louise A. Ocaka, Alice E. Davidson, John R. Heckenlively, Kari Branham, Huanan Ren, Irma Lopez, Maleeha Maria, Maleeha Azam, Arjen Henkes, Ellen Blokland, LCA5 Study Group (see Acknowledgments for Universities):, [Sten Andreasson, Elfride de Baere, Jean Bennett, Gerald J. Chader, Wolfgang Berger, Irina Golovleva, Jacquie Greenberg, Anneke I. den Hollander, Caroline C.W. Klaver, B. Jeroen Klevering, Birgit Lorenz, Markus N. Preising, Raj Ramesar, Lisa Roberts, Ronald Roepman, Klaus Rohrschneider, Bernd Wissinger], Raheel Qamar, Andrew R. Webster, Frans P.M. Cremers, Anthony T. Moore, Robert K. Koenekoop
Institutions: University College London, Moorfields Eye Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Peking Union Medical College Hospital, Rotterdam Eye Hospital, Massachusetts Eye and Ear Infirmary, Harvard University, McGill University Health Centre, McGill University, Radboud University Nijmegen, COMSATS University Islamabad, Radboud University Medical Center, Isra University
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: closed
OpenAlex ID: W2532845902