A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa

American Journal of Human Genetics

Volumn 88, Issue 5, 2011, Pages 643-649

  Tanackovic, Goranka ^a   Ransijn, Adriana ^a   Ayuso, Carmen ^c   Harper, Shyana ^b   Berson, Eliot L ^b   Rivolta, Carlo ^a  

^a UNIVERSITY OF LAUSANNE   (Switzerland)

^b HARVARD MEDICAL SCHOOL   (United States)

^c CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT RETINITIS PIGMENTOSA; CELLULAR DISTRIBUTION; COILED BODY; GENE; GENE EXPRESSION; GENE LOCATION; GENETIC ASSOCIATION; GENETIC TRANSCRIPTION; HUMAN; LYMPHOBLAST; MISSENSE MUTATION; PATHOGENESIS; PRIORITY JOURNAL; PRPF6 GENE; RETINITIS PIGMENTOSA; RNA SPLICING; RNA STABILITY;

ADULT; EYE PROTEINS; GENES, DOMINANT; HELA CELLS; HUMANS; INTRONS; MALE; MUTATION, MISSENSE; PEDIGREE; RETINA; RETINITIS PIGMENTOSA; RNA SPLICING; RNA-BINDING PROTEINS; SPLICEOSOMES; TRANSCRIPTION FACTORS;

EID: 79955832411     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2011.04.008     Document Type: Article

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