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First identification and expression of a type 2N von Willebrand disease mutation (E1078K) located in exon 25 of von Willebrand factor gene.

AuthorsL Hilbert, R D'Oiron, E Fressinaud, D Meyer, C Mazurier, INSERM Network on Molecular Abnormalities in von Willebrand Disease
JournalJournal of thrombosis and haemostasis : JTH (J Thromb Haemost) Vol. 2 Issue 12 Pg. 2271-3 (Dec 2004) ISSN: 1538-7933 [Print] England
PMID15613050 (Publication Type: Case Reports, Letter)
Chemical References
  • von Willebrand Factor
Topics
  • Adult
  • Animals
  • COS Cells
  • Dose-Response Relationship, Drug
  • Exons
  • Heterozygote
  • Humans
  • Male
  • Mutation
  • Protein Structure, Tertiary
  • von Willebrand Diseases (genetics)
  • von Willebrand Factor (genetics)

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