Retinitis pigmentosa mutations of SNRNP200 enhance cryptic splice-site Recognition

Human Mutation

Volumn 35, Issue 3, 2014, Pages 308-317

  Cvačková, Zuzana ^a   Matějů, Daniel ^a   Staněk, David ^a  

^a INSTITUTE OF MATHEMATICS   (Czech Republic)

Author keywords

Cryptic splice sites; Retinitis pigmentosa; RNA splicing; SNRP200; U5 snRNP

Indexed keywords

HEMOGLOBIN BETA CHAIN; MESSENGER RNA; MESSENGER RNA PRECURSOR; PLASMID DNA; RNA HELICASE; RNA HELICASE BRR2; RNA POLYMERASE II; SMALL INTERFERING RNA; SMALL NUCLEAR RIBONUCLEOPROTEIN; UNCLASSIFIED DRUG;

5' UNTRANSLATED REGION; ALTERNATIVE RNA SPLICING; ARTICLE; BACTERIAL ARTIFICIAL CHROMOSOME; CLONING; FEMALE; FLUORESCENCE ACTIVATED CELL SORTING; FLUORESCENCE RECOVERY AFTER PHOTOBLEACHING; GENE MUTATION; GENE SEQUENCE; GENETIC TRANSFECTION; HELA CELL; HOUSEKEEPING GENE; HUMAN; HUMAN CELL; IMMUNOFLUORESCENCE; IMMUNOPRECIPITATION; PRIORITY JOURNAL; REPORTER GENE; RETINITIS PIGMENTOSA; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SITE DIRECTED MUTAGENESIS; SPLICEOSOME; SPLICING DEFECT; ULTRACENTRIFUGATION;

BACTERIA (MICROORGANISMS);

CRYPTIC SPLICE SITES; RETINITIS PIGMENTOSA; RNA SPLICING; SNRP200; U5 SNRNP;

ALTERNATIVE SPLICING; BETA-GLOBINS; CLONING, MOLECULAR; GENES, REPORTER; HELA CELLS; HUMANS; MUTATION; RETINITIS PIGMENTOSA; RIBONUCLEOPROTEINS, SMALL NUCLEAR; RNA HELICASES; RNA PRECURSORS; RNA SPLICE SITES; SPLICEOSOMES;

EID: 84893968426     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22481     Document Type: Article

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