Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy

Author:

Wheway Gabrielle,Douglas Andrew,Baralle Diana,Guillot Elsa

Funder

Wellcome Trust

National Eye Research Centre

University of Southampton

Faculty of Medicine

NIHR

Publisher

Elsevier BV

Subject

Cellular and Molecular Neuroscience,Sensory Systems,Ophthalmology

Reference137 articles.

1. Characterization of macular structure and function in two Swedish families with genetically identified autosomal dominant retinitis pigmentosa;Abdulridha-Aboud;Mol. Vis.,2016

2. A large deletion in the adRP gene PRPF31: evidence that haploinsufficiency is the cause of disease;Abu-Safieh;Mol. Vis.,2006

3. Molecular architecture of the human U4/U6.U5 tri-snRNP;Agafonov;Science (New York, N.Y.),2016

4. Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F;Alagramam;Hum. Mol. Genet.,2001

5. Genetic heterogeneity in autosomal dominant retinitis pigmentosa with low-frequency damped electroretinographic wavelets;Aleman;Eye,2009

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