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Title

Whole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31

Authors
Villanueva, Adda
Willer, Jason R
Katsanis, Nicholas
Davis, Erica E
Published in Investigative Ophthalmology & Visual Science. 2014, vol. 55, no. 4, p. 2121-2129
Abstract Mutations at some retinitis pigmentosa (RP) loci are associated with variable penetrance and expressivity, exacerbating diagnostic challenges. The purpose of this study was to dissect the genetic underpinnings of nonsyndromic RP with variable age of onset in a large Mexican family.
Keywords AdolescentAdultAllelesChildExome/geneticsEye Proteins/genetics/metabolismFemaleGenes, DominantGenetic Predisposition to DiseaseGenotypeHumansMaleMiddle AgedPedigreePhenotypePolymerase Chain ReactionRNA/geneticsRNA SplicingRetinitis Pigmentosa/diagnosis/genetics/metabolismSequence DeletionYoung Adult
Identifiers
PMID: 24595387
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Article (Published version) (908 Kb) - public document Free access
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Research group Population Genomics and Genetics of Complex Traits (892)
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VILLANUEVA, Adda et al. Whole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31. In: Investigative Ophthalmology & Visual Science, 2014, vol. 55, n° 4, p. 2121-2129. doi: 10.1167/iovs.13-13827 https://archive-ouverte.unige.ch/unige:90270

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Deposited on : 2016-12-13

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