Prediction of single-nucleotide substitutions that result in exon skipping: Identification of a splicing silencer in BRCA1 exon 6

Human Mutation

Volumn 32, Issue 4, 2011, Pages 436-444

  Raponi, Michela ^a   Kralovicova, Jana ^a   Copson, Ellen ^a   Divina, Petr ^b   Eccles, Diana ^a   Johnson, Peter ^a   Baralle, Diana ^a   Vorechovsky, Igor ^a  

^a UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^b INSTITUTE OF MOLECULAR GENETICS   (Czech Republic)

Author keywords

BRCA1; Gene; RNA; Splicing

Indexed keywords

BRCA1 PROTEIN; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ALLELE; ARTICLE; CELL STRAIN HEK293; CELL STRAIN MCF 7; EXON; EXONIC SINGLE NUCLEOTIDE SUBSTITUTION; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; HELA CELL; HUMAN; HUMAN CELL; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN SECONDARY STRUCTURE; RNA STRUCTURE; SILENT MUTATION; SITE DIRECTED MUTAGENESIS; SPLICING DEFECT;

ALTERNATIVE SPLICING; BASE SEQUENCE; BRCA1 PROTEIN; EXONS; FEMALE; HELA CELLS; HUMANS; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; MUTATION; REGULATORY SEQUENCES, RIBONUCLEIC ACID; RNA SPLICING; RNA, MESSENGER;

EID: 79952755720     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21458     Document Type: Article

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