A 13 base pair deletion in the GPIbbeta gene in a second unrelated Bernard-Soulier family due to slipped mispairing between direct repeats

J Thromb Haemost. 2004 Sep;2(9):1663-5. doi: 10.1111/j.1538-7836.2004.00895.x.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Bernard-Soulier Syndrome / blood*
  • Bernard-Soulier Syndrome / genetics*
  • Child, Preschool
  • Codon, Nonsense
  • DNA / chemistry
  • DNA / genetics
  • Female
  • Frameshift Mutation
  • Humans
  • Male
  • Models, Genetic
  • Nucleic Acid Conformation
  • Platelet Glycoprotein GPIb-IX Complex / chemistry
  • Platelet Glycoprotein GPIb-IX Complex / genetics*
  • Repetitive Sequences, Nucleic Acid
  • Sequence Deletion

Substances

  • Codon, Nonsense
  • Platelet Glycoprotein GPIb-IX Complex
  • DNA