A Finnish BRCA1 exon 12 4216-2nt A to G splice acceptor site mutation causes aberrant splicing and frameshift, leading to protein truncation

Hum Mutat. 2000 Jan;15(1):120. doi: 10.1002/(SICI)1098-1004(200001)15:1<120::AID-HUMU31>3.0.CO;2-E.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution
  • BRCA1 Protein / genetics*
  • Breast Neoplasms / genetics
  • Chromosomes, Human, Pair 17
  • Female
  • Finland
  • Frameshift Mutation
  • Humans
  • Molecular Sequence Data
  • Ovarian Neoplasms / genetics
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • RNA Splicing*

Substances

  • BRCA1 Protein

Associated data

  • GENBANK/U14680