Redundant designations of BRCA1 intron 11 splicing mutation; c. 4216-2A>G; IVS11-2A>G; L78833, 37698, A>G

Human Mutation

Volumn 16, Issue 3, 2000, Pages 264-

  Svojanovsky, Stan R ^a   Schneider, Thomas D ^b   Rogan, Peter K ^a  

^a CHILDREN S MERCY HOSPITAL   (United States)

^b NATIONAL CANCER INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN;

GENE MUTATION; GENE SEQUENCE; INTRON; LETTER; PRIORITY JOURNAL; RNA SPLICING;

AMINO ACID SUBSTITUTION; BREAST NEOPLASMS; FINLAND; FRAMESHIFT MUTATION; GENES, BRCA1; HUMANS; INTRONS; RNA SPLICE SITES;

EID: 0033857118     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/1098-1004(200009)16:3<264::AID-HUMU9>3.0.CO;2-1     Document Type: Letter

References (4)

1. Recommendations for a nomenclature system for human gene mutations
2. A Finnish BRCA1 exon 12 4216-2nt A to G splice acceptor site mutation causes aberrant splicing and frameshift leading to protein truncation
3. Informaticn analysis of human splice mutations
4. Complete genomic sequence and analysis of 117 kb of human DNA containing the gene BRCA1