Characterization of aberrant splicing of von Willebrand factor in von Willebrand disease: an underrecognized mechanism-Reference-Cited by-同舟云学术

Characterization of aberrant splicing of von Willebrand factor in von Willebrand disease: an underrecognized mechanism

Published:2016-07-28 Issue:4 Volume:128 Page:584-593
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Hawke Lindsey¹,Bowman Mackenzie L.²,Poon Man-Chiu³,Scully Mary-Frances⁴,Rivard Georges-Etienne⁵,James Paula D.²

Affiliation:

1. Department of Pathology and Molecular Medicine and

2. Department of Medicine, Queen’s University, Kingston, ON, Canada;

3. Department of Medicine, Foothills Medical Centre, Alberta Health Services, University of Calgary, Calgary, AB, Canada;

4. Division of Hematology/Oncology, Health Sciences Centre, St. Johns, NL, Canada; and

5. Clinique d'Hematologie, Centre Hospitalier Universitaire St. Justine, Montréal, QC, Canada

Abstract

Key Points Aberrant splicing is an underrecognized mechanism causing VWD and is affected by shear stress. Alternative splicing of endothelial VWF occurs in the normal population.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/128/4/584/1397798/584.pdf

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4. von Willebrand factor and von Willebrand disease.;Budde;Rev Clin Exp Hematol,2001

5. The mutational spectrum of type 1 von Willebrand disease: results from a Canadian cohort study.;James;Blood,2007

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