A missense mutation in the APC tumor suppressor gene disrupts an ASF/SF2 splicing enhancer motif and causes pathogenic skipping of exon 14

Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis

Volumn 662, Issue 1-2, 2009, Pages 33-36

  Gonçalves, Vânia ^a   Theisen, Patrícia ^a   Antunes, Ofélia ^a   Medeira, Ana ^b   Ramos, José Silva ^c   Jordan, Peter ^a   Isidro, Glória ^a  

^a NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

^b Hospital de Sta Maria ^*  (Portugal)

^c HOSPITAL DE SANTO ANTÓNIO DOS CAPUCHOS   (Portugal)

Author keywords

APC; Familial colorectal cancer; Mutation; RNA splicing; Splicing factor

Indexed keywords

ASF PROTEIN; MEMBRANE PROTEIN; SF2 PROTEIN; UNCLASSIFIED DRUG;

ADULT; APC GENE; ARTICLE; BINDING SITE; BIOINFORMATICS; CANCER CELL CULTURE; CASE REPORT; CODON; COLORECTAL CANCER; EXON; GENE DISRUPTION; GENE MUTATION; GENETIC PREDISPOSITION; GENETIC TRANSCRIPTION; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; MOLECULAR CLONING; PATHOGENESIS; POINT MUTATION; PREDICTION; PRIORITY JOURNAL; PROTEIN MOTIF; REPORTER GENE; RNA ANALYSIS; RNA INTERFERENCE; RNA SPLICING; TUMOR SUPPRESSOR GENE;

ADENOMATOUS POLYPOSIS COLI; ADENOMATOUS POLYPOSIS COLI PROTEIN; ALTERNATIVE SPLICING; ENHANCER ELEMENTS, GENETIC; EXONS; GENES, REPORTER; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; NUCLEAR PROTEINS; RNA, MESSENGER;

EID: 60749118005     PISSN: 00275107     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mrfmmm.2008.12.001     Document Type: Article

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