Exon skipping and aberrant signal peptide cleavage produce novel fibrinogen with an Aα chain lacking the first 42 residues

Thromb Haemost. 2016 Aug 30;116(3):581-5. doi: 10.1160/TH16-03-0197. Epub 2016 Jun 9.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Afibrinogenemia / blood
  • Afibrinogenemia / genetics
  • Amino Acid Sequence
  • Exons
  • Female
  • Fibrinogen / chemistry
  • Fibrinogen / genetics*
  • Fibrinogen / metabolism
  • Fibrinogens, Abnormal / chemistry
  • Fibrinogens, Abnormal / genetics*
  • Fibrinogens, Abnormal / metabolism
  • Humans
  • Middle Aged
  • Mutation*
  • Peptide Fragments / chemistry
  • Peptide Fragments / genetics
  • Peptide Fragments / metabolism
  • Point Mutation
  • Protein Multimerization / genetics
  • Protein Processing, Post-Translational
  • Protein Sorting Signals / genetics
  • RNA Splice Sites
  • Sequence Deletion
  • Spectrometry, Mass, Electrospray Ionization

Substances

  • Fibrinogens, Abnormal
  • Peptide Fragments
  • Protein Sorting Signals
  • RNA Splice Sites
  • fibrinogen Aalpha
  • fibrinogen Adelaide
  • Fibrinogen

Supplementary concepts

  • Dysfibrinogenemia, Congenital