Variability in clinical phenotypes of PRPF8-linked autosomal dominant retinitis pigmentosa correlates with differential PRPF8/SNRNP200 interactions.

Escher, Pascal; Passarin, Olga; Munier, Francis L; Tran, Viet H; Vaclavik, Veronika

Escher, Pascal; Passarin, Olga; Munier, Francis L; Tran, Viet H; Vaclavik, Veronika.

Affiliation

Escher P; a Department of Ophthalmology , University of Lausanne, Jules-Gonin Eye Hospital , Lausanne , Switzerland.
Passarin O; b Department of Ophthalmology , Inselspital, Bern University Hospital , Bern , Switzerland.
Munier FL; c Department of BioMedical Research , University of Bern , Bern , Switzerland.
Tran VH; a Department of Ophthalmology , University of Lausanne, Jules-Gonin Eye Hospital , Lausanne , Switzerland.
Vaclavik V; a Department of Ophthalmology , University of Lausanne, Jules-Gonin Eye Hospital , Lausanne , Switzerland.

Ophthalmic Genet ; 39(1): 80-86, 2018.

Article in En | MEDLINE | ID: mdl-29087248

Subject(s)

Mutation, Missense; RNA-Binding Proteins/genetics; Retinitis Pigmentosa/genetics; Ribonucleoproteins, Small Nuclear/genetics; Adult; Amino Acid Sequence; DNA Mutational Analysis; Female; Fluorescein Angiography; Genes, Dominant; Genetic Association Studies; Humans; Male; Middle Aged; Molecular Sequence Data; Pedigree; Phenotype; Protein Conformation; Retinitis Pigmentosa/diagnosis; Tomography, Optical Coherence

Key words

BRR2; PRPF8; SNRNP200; genotype/phenotype correlation; retinitis pigmentosa; spliceosome

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Full text: 1 Database: MEDLINE Main subject: Retinitis Pigmentosa / RNA-Binding Proteins / Ribonucleoproteins, Small Nuclear / Mutation, Missense Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Female / Humans / Male / Middle aged Language: En Year: 2018 Type: Article

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