Identification of a His54Gln substitution in von Willebrand factor from a patient with defective binding of factor VIII.

doi:10.1002/(SICI)1096-8652(199604)51:4<302::AID-AJH9>3.0.CO;2-#

Back to search

Article

Identification of a His54Gln substitution in von Willebrand factor from a patient with defective binding of factor VIII.

American journal of hematology - 1 Apr 1996

Rick M E, Krizek D M

Abstract excerpt

A patient with type 2N ("Normandy" variant) von Willebrand's disease is described. Her von Willebrand factor level was borderline low, while her factor VIII was markedly decreased to 7%. Her plasma von Willebrand factor demonstrated a decreased ability to complex with factor VIII in vitro, bindin...

Topics

Adult
Alleles
Base Sequence
Deamino Arginine Vasopressin
Factor VIII
Female
Humans
Male
Molecular Sequence Data
Point Mutation
Protein Binding
von Willebrand Diseases
von Willebrand Factor

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.