SpringerLink
Log in

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

  • Letter to the Editor
  • Published:
Annals of Hematology Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Subscribe and save

Springer+ Basic
EUR 32.99 /Month
  • Get 10 units per month
  • Download Article/Chapter or Ebook
  • 1 Unit = 1 Article or 1 Chapter
  • Cancel anytime
Subscribe now

Buy Now

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1

References

  1. University of Sheffield. ISTH-SSC VWF Online Database (2012) http://www.vwf.group.shef.ac.uk/. Accessed on 15 Apr 2012

  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 109:145–154

    Article  PubMed  CAS  Google Scholar 

  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 108:662–671

    Article  PubMed  CAS  Google Scholar 

  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 109:112–121

    Article  PubMed  CAS  Google Scholar 

  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 7:1304–1312

    Article  PubMed  CAS  Google Scholar 

  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 119:2135–2140

    Article  PubMed  CAS  Google Scholar 

  7. 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 49:48–52

    Article  PubMed  CAS  Google Scholar 

Download references

Acknowledgments

The authors are grateful to the Indian Council of Medical Research for funding this research program.

Conflict of interest

The authors state that there is no conflict of interest.

Author information

Authors and Affiliations

  1. National Institute of Immunohematology (ICMR), KEM Hospital, Parel, Mumbai, 400 012, India

    Priyanka Kasatkar, Kanjaksha Ghosh & Shrimati Shetty

Authors
  1. Priyanka Kasatkar
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Kanjaksha Ghosh
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Shrimati Shetty
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Shrimati Shetty.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Kasatkar, P., Ghosh, K. & Shetty, S. A common founder mutation p.P2063S in exon 36 of VWF in 11 unrelated Indian von Willebrand disease (VWD) families. Ann Hematol 92, 1147–1148 (2013). https://doi.org/10.1007/s00277-013-1680-x

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00277-013-1680-x

Keywords

Search

Navigation