A Finnish BRCA1 exon 12 4216-2nt A to G splice acceptor site mutation causes aberrant splicing and frameshift, leading to protein truncation.
Hartikainen
J M
JM
Chromosome and DNA laboratory, Kuopio University Hospital, P. O. BOX 1777, FIN-70211 Kuopio, Finland. Jaana.Hartikainen@kuh.fi
Pirskanen
M M
MM
Arffman
A H
AH
Ristonmaa
U K
UK
Mannermaa
A J
AJ
D019943:Amino Acid Substitution; D019313:BRCA1 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics; D002886:Chromosomes, Human, Pair 17; D005260:Female; D005387:Finland; D016368:Frameshift Mutation; D006801:Humans; D008969:Molecular Sequence Data; D010051:Ovarian Neoplasms / Q000235:genetics; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D012326:RNA Splicing
D019313:BRCA1 Protein