Autosomal dominant retinitis pigmentosa secondary to pre-mRNA splicing-factor gene PRPF31 (RP11): Review of disease mechanism and report of a family with a novel 3-base pair insertion

Ophthalmic Genetics

Volumn 34, Issue 4, 2013, Pages 183-188

  Utz, Virginia M ^a   Beight, Craig D ^a   Marino, Meghan J ^a   Hagstrom, Stephanie A ^a,b   Traboulsi, Elias I ^a,b  

^a LERNER RESEARCH INSTITUTE   (United States)

^b CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Autosomal dominant; Incomplete penetrance; PRPF31; Retinitis pigmentosa; Spliceosome

Indexed keywords

ASPARTIC ACID; MESSENGER RNA PRECURSOR; PROTEIN PRPF31; SMALL NUCLEAR RIBONUCLEOPROTEIN; UNCLASSIFIED DRUG; VALINE; VISUAL PIGMENT;

ADULT; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CATARACT; CLINICAL EXAMINATION; CLINICAL FEATURE; EPIRETINAL MEMBRANE; EXON; FEMALE; GENE EXPRESSION; GENE INSERTION; GENE MUTATION; HAPLOINSUFFICIENCY; HUMAN; MOLECULAR GENETICS; NIGHT BLINDNESS; NUCLEOTIDE SEQUENCE; PALLOR; PATHOPHYSIOLOGY; PEDIGREE; PERIMETRY; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN EXPRESSION; QUANTITATIVE TRAIT LOCUS; RETINA EDEMA; RETINA MACULA EDEMA; RETINITIS PIGMENTOSA; REVIEW; RNA SPLICING; SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY; SPLICEOSOME; VISUAL ACUITY;

EXONS; EYE PROTEINS; FEMALE; GENES, DOMINANT; HUMANS; MIDDLE AGED; MUTAGENESIS, INSERTIONAL; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; RETINITIS PIGMENTOSA; RNA PRECURSORS; RNA SPLICING; SPLICEOSOMES; VISUAL ACUITY;

EID: 84884905314     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.3109/13816810.2012.762932     Document Type: Review

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