Exon 6 skipping in the Fanconi anemia C gene associated with a nonsense/missense mutation (775C-->T) in exon 5: the first example of a nonsense mutation in one exon causing skipping of another downstream

Hum Mutat. 1998:Suppl 1:S25-7. doi: 10.1002/humu.1380110109.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Amino Acid Sequence
  • Amino Acid Substitution
  • Base Sequence
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • DNA, Complementary / chemistry
  • DNA, Complementary / genetics
  • Exons / genetics*
  • Fanconi Anemia / genetics*
  • Female
  • Humans
  • Mutation
  • Mutation, Missense
  • Point Mutation

Substances

  • DNA, Complementary
  • DNA