RP1L1Variants are Associated with a Spectrum of Inherited Retinal Diseases Including Retinitis Pigmentosa and Occult Macular Dystrophy-Reference-Cited by-同舟云学术

RP1L1Variants are Associated with a Spectrum of Inherited Retinal Diseases Including Retinitis Pigmentosa and Occult Macular Dystrophy

Published:2013-03 Issue:3 Volume:34 Page:506-514
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Davidson Alice E.¹,Sergouniotis Panagiotis I.,Mackay Donna S.¹,Wright Genevieve A.²,Waseem Naushin H.,Michaelides Michel,Holder Graham E.,Robson Anthony G.,Moore Anthony T.,Plagnol Vincent³,Webster Andrew R.

Affiliation:

1. University College London Institute of Ophthalmology; London; UK

2. Moorfields Eye Hospital; London; UK

3. University College London Genetics Institute; London; UK

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22264/fullpdf

Reference25 articles.

1. Dominant mutations in RP1L1 are responsible for occult macular dystrophy;Akahori;Am J Hum Genet,2010

2. Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa;Bowne;Hum Mol Genet,1999

3. Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene;Bowne;Mol Vis,2003

4. Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families;Carr;Hum Mutat,2006

5. Compound heterozygosity of two novel truncation mutations in RP1 causing autosomal recessive retinitis pigmentosa;Chen;Invest Ophthalmol Vis Sci,2010

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