Characterization ofVWFgene conversions causing von Willebrand disease-Reference-Cited by-同舟云学术

Characterization ofVWFgene conversions causing von Willebrand disease

Published:2018-11-29 Issue:5 Volume:184 Page:817-825
ISSN:0007-1048
Container-title:British Journal of Haematology
language:en
Short-container-title:Br J Haematol

Author:

Ahmad Firdos¹^ORCID,Kannan Meganathan²,Obser Tobias³,Budde Ulrich⁴,Schneppenheim Sonja⁴,Saxena Renu⁵,Schneppenheim Reinhard³

Affiliation:

1. Sharjah Institute for Medical Research and, College of Medicine; University of Sharjah; Sharjah UAE

2. Division of Blood and Vascular Biology; Department of Life Sciences; School of Basic and Applied Sciences; Central University of Tamilnadu; Thiruvarur India

3. Department of Pediatric Haematology and Oncology; University Medical Centre; Eppendorf Hamburg Germany

4. Medilys Laboratory Coagulation; Asklepios Hospital Altona; Hamburg Germany

5. Department of Haematology; All India Institute of Medical Sciences; New Delhi India

Funder

University of Sharjah

Publisher

Wiley

Subject

Hematology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/bjh.15709/fullpdf

Reference31 articles.

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2. Characterisation of mutations and molecular studies of type 2 von Willebrand disease;Ahmad;Thrombosis and Haemostasis,2013b

3. Molecular diagnosis of von Willebrand disease;Baronciani;Haemophilia,2017

4. Structural basis of regulation of von Willebrand factor binding to glycoprotein Ib;Blenner;Journal of Biological Chemistry,2014

5. Synonymous codons direct cotranslational folding toward different protein conformations;Buhr;Molecular Cell,2016

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1. Unravelling the spectrum of von Willebrand factor variants in quantitative von Willebrand disease: results from a German cohort study;Journal of Thrombosis and Haemostasis;2024-07

2. Type 2A and 2M von Willebrand Disease: Differences in Phenotypic Parameters According to the Affected Domain by Disease-Causing Variants and Assessment of Pathophysiological Mechanisms;Seminars in Thrombosis and Hemostasis;2021-06-15

3. von Willebrand factor propeptide missense variants affect anterograde transport to Golgi resulting in ER retention;Human Mutation;2021-05-03

4. Genetic Background of von Willebrand Disease: History, Current State, and Future Perspectives;Seminars in Thrombosis and Hemostasis;2019-12-30

5. Effects of Pro1266Leu mutation on structure and function of glycoprotein Ib binding domain of von Willebrand factor;Journal of Cellular Biochemistry;2019-05-28