title: A Finnish BRCA1 exon 12 4216-2nt A to G splice acceptor site mutation causes aberrant splicing and frameshift, leading to protein truncation.
authors.affiliation: Chromosome and DNA laboratory, Kuopio University Hospital, P. O. BOX 1777, FIN-70211 Kuopio, Finland. Jaana.Hartikainen@kuh.fi
authors.forename: J M
authors.initials: JM
authors.lastname: Hartikainen
authors.forename: M M
authors.initials: MM
authors.lastname: Pirskanen
authors.forename: A H
authors.initials: AH
authors.lastname: Arffman
authors.forename: U K
authors.initials: UK
authors.lastname: Ristonmaa
authors.forename: A J
authors.initials: AJ
authors.lastname: Mannermaa
mesh_terms: 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
chemical_list: D019313:BRCA1 Protein