Author:
Wang Feng,Wang Hui,Tuan Han-Fang,Nguyen Duy H.,Sun Vincent,Keser Vafa,Bowne Sara J.,Sullivan Lori S.,Luo Hongrong,Zhao Ling,Wang Xia,Zaneveld Jacques E.,Salvo Jason S.,Siddiqui Sorath,Mao Louise,Wheaton Dianna K.,Birch David G.,Branham Kari E.,Heckenlively John R.,Wen Cindy,Flagg Ken,Ferreyra Henry,Pei Jacqueline,Khan Ayesha,Ren Huanan,Wang Keqing,Lopez Irma,Qamar Raheel,Zenteno Juan C.,Ayala-Ramirez Raul,Buentello-Volante Beatriz,Fu Qing,Simpson David A.,Li Yumei,Sui Ruifang,Silvestri Giuliana,Daiger Stephen P.,Koenekoop Robert K.,Zhang Kang,Chen Rui
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Reference54 articles.
1. Allikmets R, Singh N, Sun H, Shroyer NF, Hutchinson A, Chidambaram A, Gerrard B, Baird L, Stauffer D, Peiffer A, Rattner A, Smallwood P, Li Y, Anderson KL, Lewis RA, Nathans J, Leppert M, Dean M, Lupski JR (1997) A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet 15(3):236–246. doi: 10.1038/ng0397-236
2. Asper Biotech. http://www.asperbio.com/. Accessed 15 April 2013
3. Avila-Fernandez A, Cantalapiedra D, Aller E, Vallespin E, Aguirre-Lamban J, Blanco-Kelly F, Corton M, Riveiro-Alvarez R, Allikmets R, Trujillo-Tiebas MJ, Millan JM, Cremers FP, Ayuso C (2010) Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray. Mol Vis 16:2550–2558
4. Benaglio P, McGee TL, Capelli LP, Harper S, Berson EL, Rivolta C (2011) Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa. Hum Mutat 32(6):E2246–E2258. doi: 10.1002/humu.21485
5. Bowne SJ, Humphries MM, Sullivan LS, Kenna PF, Tam LC, Kiang AS, Campbell M, Weinstock GM, Koboldt DC, Ding L, Fulton RS, Sodergren EJ, Allman D, Millington-Ward S, Palfi A, McKee A, Blanton SH, Slifer S, Konidari I, Farrar GJ, Daiger SP, Humphries P (2011) A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement. Eur J Hum Genet 19(10):1074–1081. doi: 10.1038/ejhg.2011.86