A biochemical analysis demonstrates that the BRCA1 intronic variant IVS10-2A → C is a mutation

Journal of Human Genetics

Volumn 48, Issue 8, 2003, Pages 399-403

  Keaton, Jessica C ^a   Nielsen, David R ^a   Hendrickson, Brant C ^a   Pyne, Michael T ^a   Scheuer, Lauren ^b   Ward, Brian E ^a   Brothman, Arthur R ^c   Scholl, Thomas ^a  

^a Myriad Genetic Laboratories   (United States)

^b MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^c UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

BRCA1; Breast cancer; Intron; MRNA; Mutation; Splice

Indexed keywords

COMPLEMENTARY DNA; GENOMIC DNA; MESSENGER RNA;

ADULT; ARTICLE; BREAST CANCER; CANCER RISK; CANCER SUSCEPTIBILITY; CASE REPORT; CHEMICAL ANALYSIS; EXON; FEMALE; GENE DELETION; GENE MUTATION; GENETIC VARIABILITY; HIGH RISK POPULATION; HUMAN; NUCLEOTIDE SEQUENCE; ONCOGENE; OVARY CANCER; RNA SPLICING; SEQUENCE ANALYSIS;

ADULT; FEMALE; GENES, BRCA1; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INTRONS; MALE; PEDIGREE; POINT MUTATION; RNA SPLICE SITES; SEQUENCE ANALYSIS, DNA; SEQUENCE ANALYSIS, RNA;

EID: 0141756254     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-003-0044-0     Document Type: Article

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