Literature DB >> 10959712

An additional unique candidate mutation (G2470A; M740I) in the original families with von Willebrand disease type 2 M Vicenza and the G3864A (R1205H) mutation.

G Castaman, E Missiaglia, A B Federici, R Schneppenheim, F Rodeghiero.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2000        PMID： 10959712

Source DB:  PubMed          Journal:  Thromb Haemost        ISSN： 0340-6245            Impact factor:   5.249


× No keyword cloud information.
  7 in total

1.  Clinical and laboratory versus molecular markers for a correct classification of von Willebrand disease.

Authors:  Augusto B Federici; Maria T Canciani
Journal:  Haematologica       Date:  2009-05       Impact factor: 9.941

2.  Intersection of mechanisms of type 2A VWD through defects in VWF multimerization, secretion, ADAMTS-13 susceptibility, and regulated storage.

Authors:  Paula M Jacobi; Joan Cox Gill; Veronica H Flood; David A Jakab; Kenneth D Friedman; Sandra L Haberichter
Journal:  Blood       Date:  2012-03-19       Impact factor: 22.113

3.  Von Willebrand disease type Vicenza: In search of a classification for the archetype of reduced von Willebrand factor survival.

Authors:  Alessandra Casonato; Eva Galletta; Federico Galvanin; Viviana Daidone
Journal:  EJHaem       Date:  2021-05-05

4.  Accelerated clearance alone explains ultra-large multimers in von Willebrand disease Vicenza.

Authors:  A Gézsi; U Budde; I Deák; E Nagy; A Mohl; A Schlammadinger; Z Boda; T Masszi; J E Sadler; I Bodó
Journal:  J Thromb Haemost       Date:  2010-01-17       Impact factor: 5.824

5.  Identification of type 1 von Willebrand disease patients with reduced von Willebrand factor survival by assay of the VWF propeptide in the European study: molecular and clinical markers for the diagnosis and management of type 1 VWD (MCMDM-1VWD).

Authors:  Sandra L Haberichter; Giancarlo Castaman; Ulrich Budde; Ian Peake; Anne Goodeve; Francesco Rodeghiero; Augusto B Federici; Javier Batlle; Dominique Meyer; Claudine Mazurier; Jenny Goudemand; Jeroen Eikenboom; Reinhard Schneppenheim; Jorgen Ingerslev; Zdena Vorlova; David Habart; Lars Holmberg; Stefan Lethagen; John Pasi; Frank G H Hill; Robert R Montgomery
Journal:  Blood       Date:  2008-03-14       Impact factor: 22.113

6.  Characterizing polymorphisms and allelic diversity of von Willebrand factor gene in the 1000 Genomes.

Authors:  Q Y Wang; J Song; R A Gibbs; E Boerwinkle; J F Dong; F L Yu
Journal:  J Thromb Haemost       Date:  2013-02       Impact factor: 5.824

Review 7.  Von Willebrand disease in the elderly: clinical perspectives.

Authors:  John Chapin
Journal:  Clin Interv Aging       Date:  2018-08-31       Impact factor: 4.458
  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.