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Annals of Hematology
Published in: Annals of Hematology 8/2013

01-08-2013 | Letter to the Editor

A common founder mutation p.P2063S in exon 36 of VWF in 11 unrelated Indian von Willebrand disease (VWD) families

Authors: Priyanka Kasatkar, Kanjaksha Ghosh, Shrimati Shetty

Published in: Annals of Hematology | Issue 8/2013

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Excerpt

Dear Editor, …
Literature
1.
2.
James PD, Notley C, Hegadorn C et al (2007) The mutational spectrum of type 1 von Willebrand disease: results from a Canadian cohort study. Blood 109:145–154PubMedCrossRef
3.
Yadegari H, Driesen J, Pavlova A et al (2012) Mutation distribution in the von Willebrand factor gene related to the different von Willebrand disease (VWD) types in a cohort of VWD patients. Thromb Haemost 108:662–671PubMedCrossRef
4.
Goodeve A, Eikenboom J, Castaman G et al (2007) Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD). Blood 109:112–121PubMedCrossRef
5.
Eikenboom J, Hilbert L, Ribba AS et al (2009) Expression of 14 von Willebrand factor mutations identified in patients with type 1 von Willebrand disease from the MCMDM-1VWD study. J Thromb Haemost 7:1304–1312PubMedCrossRef
6.
Bellissimo DB, Christopherson PA, Flood VH et al (2012) VWF mutations and new sequence variations identified in healthy controls are more frequent in the African-American population. Blood 119:2135–2140PubMedCrossRef
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Shahbazi S, Baniahmad F, Zakiani-Roudsari M, Raigani M, Mahdian R (2012) Nonsense mediated decay of VWF mRNA subsequent to c.7674-7675insC mutation in type3 VWD patients. Blood Cells Mol Dis 49:48–52PubMedCrossRef
Metadata
Title
A common founder mutation p.P2063S in exon 36 of VWF in 11 unrelated Indian von Willebrand disease (VWD) families
Authors
Priyanka Kasatkar
Kanjaksha Ghosh
Shrimati Shetty
Publication date
01-08-2013
Publisher
Springer Berlin Heidelberg
Published in
Annals of Hematology / Issue 8/2013
Print ISSN: 0939-5555
Electronic ISSN: 1432-0584
DOI
https://doi.org/10.1007/s00277-013-1680-x

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