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Identification of a His54Gln substitution in von Willebrand factor from a patient with defective binding of factor VIII
Author(s) -
Rick Margaret E.,
Krizek Dennis M.
Publication year - 1996
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/(sici)1096-8652(199604)51:4<302::aid-ajh9>3.0.co;2-#
Subject(s) - substitution (logic) , von willebrand factor , identification (biology) , factor (programming language) , medicine , chemistry , computer science , biology , platelet , botany , programming language
A patient with type 2N (“Normandy” variant) von Willebrand's disease is described. Her von Willebrand factor level was borderline low, while her factor III was markedly decreased to 7%. Her plasma von Willebrand factor demonstrated a decreased ability to complex with factor VIII in vitro, binding less than 10% when compared to normal plasma von Willebrand factor. The factor VIII released into the circulation after the patient received DDAVP had a shortened survival in vivo. Nucleotide sequence analysis revealed a T‐to‐A transition at nucleotide 2451 on both alleles. This transition results in a substitution of Gln for His at amino acid 54 in the mature subunit of von Willebrand factor. © 1996 Wiley‐Liss, Inc.