Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype-Phenotype Correlations

✍ Scribed by 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; Andreasson, [Sten; de Baere, Elfride; Bennett, Jean; Chader, Gerald J.; Berger, Wolfgang; Golovleva, Irina; Greenberg, Jacquie; den Hollander, Anneke I.; Klaver, Caroline C.W.; Klevering, B. Jeroen; Lorenz, Birgit; Preising, Markus N.; Ramesar, Raj; Roberts, Lisa; Roepman, Ronald; Rohrschneider, Klaus; Wissinger], Bernd; Qamar, Raheel; Webster, Andrew R.; Cremers, Frans P.M.; Moore, Anthony T.; Koenekoop, Robert K.

• Book ID: 125886612
• Publisher: John Wiley and Sons
• Year: 2013
• Tongue: English
• Weight: 75 KB
• Volume: 35
• Category: Article
• ISSN: 1059-7794
• DOI: 10.1002/humu.22467