Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene

Journal of Medical Genetics

Volumn 45, Issue 7, 2008, Pages 438-446

  Bonnet, C ^a   Krieger, S ^b   Vezain, M ^a   Rousselin, A ^b   Tournier, I ^a   Martins, A ^a   Berthet, P ^b   Chevrier, A ^e   Dugast, C ^c   Layet, V ^d   Rossi, A ^e   Lidereau, R ^a   Frebourg T ^a,e   Hardouin, A ^b   Tosi, M ^a  

^a INSERM   (France)

^b CENTRE FRANÇOIS BACLESSE   (France)

^c CENTRE EUGÈNE MARQUIS   (France)

^d LE HAVRE HOSPITAL   (France)

^e ROUEN UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; DNA; RNA;

ARTICLE; CONTROLLED STUDY; DONOR SITE; EX VIVO STUDY; EXON; GENE ACTIVATION; GENE INSERTION; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HUMAN; NUCLEOTIDE SEQUENCE; ONCOGENE; PRIORITY JOURNAL; REPORTER GENE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA ANALYSIS; RNA SPLICING; SCREENING; SENSITIVITY AND SPECIFICITY;

ALGORITHMS; ALTERNATIVE SPLICING; BREAST NEOPLASMS; FEMALE; GENES, BRCA1; GENES, BRCA2; GENES, REPORTER; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MUTATION; OVARIAN NEOPLASMS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; VARIATION (GENETICS);

EID: 47149083097     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2007.056895     Document Type: Article

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