Very Low Frequency of “Normandy Type” Mutations among Type 1 von Willebrand Disease Families

A Inbal; N Kornbrot; P M Mannucci; J E Sadler

doi:10.1055/s-0038-1653772

Thrombosis and Haemostasis, Table of Contents

Thromb Haemost 1995; 73(02): 324
DOI: 10.1055/s-0038-1653772

Letter to the Editor

Schattauer GmbH Stuttgart

Very Low Frequency of “Normandy Type” Mutations among Type 1 von Willebrand Disease Families

A Inbal

¹Department of Hematology, Institute of Thrombosis and Hemostasis, Sheba Medical Center, Tel Hashomer, Israel

,

N Kornbrot

¹Department of Hematology, Institute of Thrombosis and Hemostasis, Sheba Medical Center, Tel Hashomer, Israel

,

P M Mannucci

²Bianchi Bonomi Hemophilia and Thrombosis Center and Institute of Internal Medicine, University of Milano, Milano, Italy

,

J E Sadler

³Howard Hughes Medical Institute and Departments of Medicine and Biochemistry and Molecular Biophysics, Washington University School of Medicine, St. Louis, Missouri, USA

› Author Affiliations

Abstract

PDF Download

PDF (44 kb)

References

References
1 Eikenboom JC J, Reitsma PH, Peerlink KM J, Briët E. Recessive inheritance of von Willebrand’s disease type I. Lancet 1993; 341: 982-986
2 Mazurier C. von Willebrand disease masquerading as hemophilia A. Thromb Haemost 1992; 67: 391-396
3 Sadler JE. A revised classification of von Willebrand disease. Thromb Haemost 1994; 71: 520-525
4 Lavergne JM, Piao Y, Ribba AS, Girma JP, Siguret V, Pietu G, Boyer- NeumannC, Schandelong A, Bahnak BR, Meyer D. Functional analysis of the Arg91Gln substitution in the factor VIII binding domain of von Willebrand factor demonstrates variable phenotypic expression. Thromb Haemost 1993; 70: 691-696