Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa

Author:

Li Lin,Jiao Xiaodong,D’Atri IlariaORCID,Ono Fumihito,Nelson RalphORCID,Chan Chi-Chao,Nakaya Naoki,Ma Zhiwei,Ma Yan,Cai Xiaoying,Zhang Longhua,Lin SiyingORCID,Hameed Abdul,Chioza Barry A.ORCID,Hardy HollyORCID,Arno Gavin,Hull Sarah,Khan Muhammad Imran,Fasham JamesORCID,Harlalka Gaurav V.,Michaelides Michel,Moore Anthony T.ORCID,Coban Akdemir Zeynep Hande,Jhangiani Shalini,Lupski James R.,Cremers Frans P. M.,Qamar Raheel,Salman Ahmed,Chilton John,Self JayORCID,Ayyagari Radha,Kabir Firoz,Naeem Muhammad Asif,Ali Muhammad,Akram Javed,Sieving Paul A.,Riazuddin Sheikh,Baple Emma L.,Riazuddin S. Amer,Crosby Andrew H.,Hejtmancik J. Fielding

Funder

National Eye Institute

National Human Genome Research Institute

National Natural Science Foundation of China

Medical Research Council

Newlife Foundation for Disabled Children

Fight for Sight

Shanghai Municipal Education Commission

Rotterdamse Stichting Blindenbelangen

Stichting voor Ooglijders

Nelly Reef Fund

Publisher

Public Library of Science (PLoS)

Subject

Cancer Research,Genetics(clinical),Genetics,Molecular Biology,Ecology, Evolution, Behavior and Systematics

Reference44 articles.

1. Retinitis pigmentosa;DT Hartong;Lancet,2006

2. Retinal photoreceptor dystrophies LI. Edward Jackson Memorial Lecture;AC Bird;AmJOphthalmol,1995

3. Age at onset curves of retinitis pigmentosa;M Tsujikawa;Arch Ophthalmol,2008

4. Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management;B Bocquet;Ophthalmic Epidemiol,2013

5. Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families;L Li;Invest Ophthalmol Vis Sci,2017

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