Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa

Author:

Arno Gavin,Agrawal Smriti A.,Eblimit Aiden,Bellingham James,Xu Mingchu,Wang Feng,Chakarova Christina,Parfitt David A.,Lane Amelia,Burgoyne Thomas,Hull Sarah,Carss Keren J.,Fiorentino Alessia,Hayes Matthew J.,Munro Peter M.,Nicols Ralph,Pontikos Nikolas,Holder Graham E.,Asomugha Chinwe,Raymond F. Lucy,Moore Anthony T.,Plagnol Vincent,Michaelides Michel,Hardcastle Alison J.,Li Yumei,Cukras Catherine,Webster Andrew R.,Cheetham Michael E.,Chen Rui,Black Graeme,Hall Georgina,Ingram Stuart,Gillespie Rachel,Manson Forbes,Sergouniotis Panagiotis,Inglehearn Chris,Toomes Carmel,Ali Manir,McKibbin Martin,Poulter James,Khan Kamron,Lord Emma,Nemeth Andrea,Downes Susan,Yu Jing,Lise Stefano,Arno Gavin,Fiorentino Alessia,Ponitkos Nikos,Plagnol Vincent,Michaelides Michel,Hardcastle Alison J.,Cheetham Michael E.,Webster Andrew R.,van Heyningen Veronica

Funder

Foundation Fighting Blindness

National Eye Institute

NEI

RP Fighting Blindness

Fight for Sight

The Wellcome Trust

The National Institute for Health Research (UK)

Biomedical Research Centre at Moorfields Eye Hospital

UCL Institute of Ophthalmology

Fight for Sight UK

Moorfields Eye Hospital Special Trustees

Foundation Fighting Blindness - USA

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference34 articles.

1. Retinitis pigmentosa: genes and disease mechanisms;Ferrari;Curr. Genomics,2011

2. Perspective on genes and mutations causing retinitis pigmentosa;Daiger;Arch. Ophthalmol.,2007

3. Retinal dystrophies, genomic applications in diagnosis and prospects for therapy;Nash;Transl. Pediatr.,2015

4. Retinitis pigmentosa. The Friedenwald Lecture;Berson;Invest. Ophthalmol. Vis. Sci.,1993

5. Molecular genetics of human retinal disease;Rattner;Annu. Rev. Genet.,1999

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