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Journal Article
American Journal of Ophthalmology, ISSN 0002-9394, 04/2019, Volume 200, pp. 76 - 84
Variants in , a splicing factor, are a common cause of autosomal dominant retinitis pigmentosa (RP). Deleterious variants are thought to cause disease by... 
MESSENGER-RNA | OPTICAL COHERENCE TOMOGRAPHY | FAMILIES | GENES | OPHTHALMOLOGY | AUTOSOMAL-DOMINANT | PRPF31 | MUTATIONS | EXPRESSION | CELL-DEATH | HAPLOINSUFFICIENCY | Retinitis pigmentosa | Development and progression | Proteins | Statistical analysis | Retina | Genetic testing | Mutation | Ophthalmology | Patients | Deoxyribonucleic acid--DNA | Age
Journal Article
Human Genetics, ISSN 0340-6717, 3/2014, Volume 133, Issue 3, pp. 331 - 345
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2009, Volume 85, Issue 5, pp. 617 - 627
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 01/2011, Volume 52, Issue 1, pp. 494 - 503
PURPOSE. To determine whether massively parallel next-generation DNA sequencing offers rapid and efficient detection of disease-causing mutations in patients... 
RNA SPLICING GENE | TRANSCRIPTS | LEBER CONGENITAL AMAUROSIS | PROTEIN | FAMILIES | OPHTHALMOLOGY | CHINESE | PREVALENCE | SELECTION | BLINDNESS | RPGR | Genes, X-Linked | Genes, Dominant | DNA Mutational Analysis | Pedigree | Humans | Polymerase Chain Reaction | Retinitis Pigmentosa - genetics | Female | Male | Mutation | Sequence Analysis, DNA | Index Medicus
Journal Article
PLoS ONE, ISSN 1932-6203, 2011, Volume 6, Issue 8, pp. e23021 - e23021
Journal Article
JAMA Ophthalmology, ISSN 2168-6165, 05/2015, Volume 133, Issue 5, p. 511
  Screening for splice site mutation c.828+3A>T in the peripherin 2 (PRPH2) gene should be a high priority in families with highly variable retinal... 
Genetic disorders | Genes | Eye diseases | Mutation | Ophthalmology | Polymorphism
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 10/2011, Volume 19, Issue 10, pp. 1074 - 1081
Journal Article
Journal Article