The BRCA1 c.5434C→/G (p.Pro1812Ala) variant induces a deleterious exon 23 skipping by affecting exonic splicing regulatory elements

Journal of Medical Genetics

Volumn 47, Issue 6, 2010, Pages 398-403

  Gaildrat, Pascaline ^a,b   Krieger, Sophie ^c   Théry, Jean Christophe ^a,b   Killian, Audrey ^a,b   Rousselin, Antoine ^c   Berthet, Pascaline ^c   Frébourg, Thierry ^a,b,d   Hardouin, Agnès ^c   Martins, Alexandra ^a,b   Tosi, Mario ^a,b  

^a UNIVERSITÉ DE ROUEN   (France)

^b Institute for Biomedical Research   (France)

^c CENTRE FRANÇOIS BACLESSE   (France)

^d ROUEN UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; RIBONUCLEOPROTEIN;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BIOINFORMATICS; BREAST CANCER; CANCER SUSCEPTIBILITY; CASE REPORT; ENHANCER REGION; EXON SKIPPING; FEMALE; FRAMESHIFT MUTATION; GENETIC VARIABILITY; HUMAN; NUCLEOTIDE SEQUENCE; ONCOGENE; OVARY CANCER; PRIORITY JOURNAL; PROTEIN DOMAIN; RNA ANALYSIS; RNA SPLICING; SPLICING DEFECT;

AMINO ACID SEQUENCE; BASE SEQUENCE; BRCA1 PROTEIN; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENE EXPRESSION REGULATION, NEOPLASTIC; HUMANS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; OVARIAN NEOPLASMS; POINT MUTATION; REGULATORY SEQUENCES, NUCLEIC ACID; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICING; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 77953707792     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2009.074047     Document Type: Article

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