Identification and characterization of the elusive mutation causing the historical von Willebrand Disease type IIC Miami-Reference-Cited by-同舟云学术

Identification and characterization of the elusive mutation causing the historical von Willebrand Disease type IIC Miami

Published:2016-08-20 Issue:9 Volume:14 Page:1725-1735
ISSN:1538-7933
Container-title:Journal of Thrombosis and Haemostasis
language:en
Short-container-title:J Thromb Haemost

Author:

Obser T.¹,Ledford-Kraemer M.²,Oyen F.¹,Brehm M. A.¹,Denis C. V.³,Marschalek R.⁴,Montgomery R. R.⁵,Sadler J. E.⁶,Schneppenheim S.⁷,Budde U.⁷,Schneppenheim R.¹

Affiliation:

1. Department of Pediatric Hematology and Oncology; University Medical Center Hamburg-Eppendorf; Hamburg Germany

2. CLOT-ED, Inc.; Islamorada FL USA

3. INSERM UMR_S 1176; Université Paris-Sud; Université Paris-Saclay; Le Kremlin-Bicetre France

4. Institute of Pharmaceutical Biology/ZAFES/DCAL; Biocenter; Johann-Wolfgang-Goethe-University Frankfurt; Frankfurt/Main Germany

5. Blood Research Institute of Blood Center of Wisconsin and Medical College of Wisconsin; Milwaukee WI USA

6. Departments of Medicine and Biochemistry and Molecular Biophysics; Washington University School of Medicine; St. Louis MO USA

7. Medilys Central Laboratory Coagulation; Asklepios Clinic Altona; Hamburg Germany

Funder

Deutsche Forschungsgemeinschaft

German National Genome Research Net, NGFN2

National Institutes of Health

Publisher

Wiley

Subject

Hematology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/jth.13398/fullpdf

Reference40 articles.

1. Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor;Sadler;J Thromb Haemost,2006

2. von Willebrand factor: the complex molecular genetics of a multidomain and multifunctional protein;Schneppenheim;J Thromb Haemost,2011

3. Subunit composition of plasma von Willebrand factor. Cleavage is present in normal individuals, increased in IIA and IIB von Willebrand disease, but minimal in variants with aberrant structure of individual oligomers (types IIC, IID, and IIE);Zimmerman;J Clin Invest,1986

4. Defective dimerization of von Willebrand factor subunits due to a Cys-> Arg mutation in type IID von Willebrand disease;Schneppenheim;Proc Natl Acad Sci USA,1996

5. A cluster of mutations in the D3 domain of von Willebrand factor correlates with a distinct subgroup of von Willebrand disease: type 2A/IIE;Schneppenheim;Blood,2010

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