CNOT3 Is a Modifier of PRPF31 Mutations in Retinitis Pigmentosa with Incomplete Penetrance

PLoS Genetics

Volumn 8, Issue 11, 2012, Pages

  Venturini, Giulia ^a   Rose, Anna M ^b   Shah, Amna Z ^b   Bhattacharya, Shomi S ^b   Rivolta, Carlo ^a  

^a UNIVERSITY OF LAUSANNE   (Switzerland)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CHEMOKINE RECEPTOR CCR4; MESSENGER RNA; SMALL INTERFERING RNA;

ALLELE; ARTICLE; ASYMPTOMATIC DISEASE; AUTOSOMAL DOMINANT DISORDER; BINDING KINETICS; CHROMATIN IMMUNOPRECIPITATION; CLINICAL ARTICLE; CLINICAL FEATURE; CNOT3 GENE; CONTROLLED STUDY; DISEASE ASSOCIATION; GENE; GENE DELETION; GENE EXPRESSION REGULATION; GENE SEQUENCE; GENE SILENCING; GENETIC ASSOCIATION; HETEROZYGOTE; HUMAN; HUMAN CELL; INTRON; NUCLEOTIDE SEQUENCE; PENETRANCE; PROMOTER REGION; PRPF31 GENE; RETINITIS PIGMENTOSA; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSCRIPTION TERMINATION; WILD TYPE;

EYE PROTEINS; GENE EXPRESSION REGULATION; HETEROZYGOTE; HUMANS; PENETRANCE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC; RETINITIS PIGMENTOSA; RNA, SMALL INTERFERING; SEQUENCE DELETION; TRANSCRIPTION FACTORS;

EID: 84870674014     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1003040     Document Type: Article

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