Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations
Year: 2013
Type: article
Study design: Observational Study
DOI: 10.1002/humu.22398
Authors: Mackay, Donna S, Borman, Arundhati Dev, Sui, Ruifang, van den Born, L Ingeborgh, Berson, Eliot L, Ocaka, Louise A, Davidson, Alice E, Heckenlively, John R, Branham, Kari, Ren, Huanan, Lopez, Irma, Maria, Maleeha, Azam, Maleeha, Henkes, Arjen, Blokland, Ellen A, Qamar, Raheel, Webster, Andrew R, Cremers, Frans P M, Moore, Anthony T, Koenekoop, Robert K, LCA5 Study Group, Andreasson, Sten, De Baere, Elfride; https://orcid.org/0000-0002-5609-6895, Bennett, Jean, Chader, Gerald J, Berger, Wolfgang; https://orcid.org/0000-0002-0370-3815, Golovleva, Irina, Greenberg, Jacquie, den Hollander, Anneke I; https://orcid.org/0000-0003-0634-5408, Klaver, Caroline C W, et al
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: closed
OpenAlex ID: W7212035517
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