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Literature
1.
go back to reference Kasatkar P, Ghosh K, Shetty S (2013) A common founder mutation p.P2063S in exon 36 of VWF in 11 unrelated Indian von Willebrand disease (VWD) families. Ann Hematol. doi:10.1007/s00277-013-1680-x Kasatkar P, Ghosh K, Shetty S (2013) A common founder mutation p.P2063S in exon 36 of VWF in 11 unrelated Indian von Willebrand disease (VWD) families. Ann Hematol. doi:10.​1007/​s00277-013-1680-x
2.
go back to reference Eikenboom J, Hilbert L, Ribba AS, Hommais A, Habart D, Messenger S, Al-Buhairan A, Guilliatt A, Lester W, Mazurier C, Meyer D, Fressinaud E, Budde U, Will K, Schneppenheim R, Obser T, Marggraf O, Eckert E, Castaman G, Rodeghiero F, Federici AB, Batlle J, Goudemand J, Ingerslev J, Lethagen S, Hill F, Peake I, Goodeve A (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 7:1304–1312CrossRefPubMed Eikenboom J, Hilbert L, Ribba AS, Hommais A, Habart D, Messenger S, Al-Buhairan A, Guilliatt A, Lester W, Mazurier C, Meyer D, Fressinaud E, Budde U, Will K, Schneppenheim R, Obser T, Marggraf O, Eckert E, Castaman G, Rodeghiero F, Federici AB, Batlle J, Goudemand J, Ingerslev J, Lethagen S, Hill F, Peake I, Goodeve A (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 7:1304–1312CrossRefPubMed
3.
go back to reference Johansson AM, Halldén C, Säll T, Lethagen S (2011) Variation in the VWF gene in Swedish patients with type 1 von Willebrand disease. Ann Hum Genet 75:447–455CrossRefPubMed Johansson AM, Halldén C, Säll T, Lethagen S (2011) Variation in the VWF gene in Swedish patients with type 1 von Willebrand disease. Ann Hum Genet 75:447–455CrossRefPubMed
4.
go back to reference Wang QY, Song J, Gibbs RA, Boerwinkle E, Dong JF, Yu FL (2013) Characterizing polymorphisms and allelic diversity of von Willebrand factor gene in the 1000 Genomes. J Thromb Haemost 11:261–269PubMedCentralCrossRefPubMed Wang QY, Song J, Gibbs RA, Boerwinkle E, Dong JF, Yu FL (2013) Characterizing polymorphisms and allelic diversity of von Willebrand factor gene in the 1000 Genomes. J Thromb Haemost 11:261–269PubMedCentralCrossRefPubMed
5.
go back to reference Baronciani L, Cozzi G, Canciani MT, Peyvandi F, Srivastava A, Federici AB, Mannucci PM (2003) Molecular defects in type 3 von Willebrand disease: updated results from 40 multiethnic patients. Blood Cells Mol Dis 30:264–270CrossRefPubMed Baronciani L, Cozzi G, Canciani MT, Peyvandi F, Srivastava A, Federici AB, Mannucci PM (2003) Molecular defects in type 3 von Willebrand disease: updated results from 40 multiethnic patients. Blood Cells Mol Dis 30:264–270CrossRefPubMed
6.
go back to reference Gupta PK, Saxena R, Adamtziki E, Budde U, Oyen F, Obser T, Schneppenheim R (2008) Genetic defects in von Willebrand disease type 3 in Indian and Greek patients. Blood Cells Mol Dis 41:219–222CrossRefPubMed Gupta PK, Saxena R, Adamtziki E, Budde U, Oyen F, Obser T, Schneppenheim R (2008) Genetic defects in von Willebrand disease type 3 in Indian and Greek patients. Blood Cells Mol Dis 41:219–222CrossRefPubMed
7.
go back to reference Ahmad F, Budde U, Jan R, Oyen F, Kannan M, Saxena R, Schneppenheim R (2013) Phenotypic and molecular characterisation of type 3 von Willebrand disease in a cohort of Indian patients. Thromb Haemost 109:652–660CrossRefPubMed Ahmad F, Budde U, Jan R, Oyen F, Kannan M, Saxena R, Schneppenheim R (2013) Phenotypic and molecular characterisation of type 3 von Willebrand disease in a cohort of Indian patients. Thromb Haemost 109:652–660CrossRefPubMed
8.
go back to reference Hampshire DJ, Abuzenadah AM, Cartwright A, Al-Shammari NS, Coyle RE, Eckert M, Al-Buhairan AM, Messenger SL, Budde U, Gürsel T, Ingerslev J, Peake IR, Goodeve AC (2013) Identification and characterisation of mutations associated with von Willebrand disease in a Turkish patient cohort. Thromb Haemost. doi:10.1160/TH13-02-0135 Hampshire DJ, Abuzenadah AM, Cartwright A, Al-Shammari NS, Coyle RE, Eckert M, Al-Buhairan AM, Messenger SL, Budde U, Gürsel T, Ingerslev J, Peake IR, Goodeve AC (2013) Identification and characterisation of mutations associated with von Willebrand disease in a Turkish patient cohort. Thromb Haemost. doi:10.​1160/​TH13-02-0135
9.
go back to reference Hampshire DJ, Goodeve AC (2011) The molecular basis of von Willebrand disease: the under investigated, the unexpected and the overlooked. Haematologica 96:798–800CrossRefPubMed Hampshire DJ, Goodeve AC (2011) The molecular basis of von Willebrand disease: the under investigated, the unexpected and the overlooked. Haematologica 96:798–800CrossRefPubMed
10.
go back to reference Schneppenheim R, Budde U, Beutel K, Hassenpflug W-A, Hauch H, Obser T, Oyen F, Schneppenheim S, Schrum J (2009) Response to DDAVP in children with von Willebrand disease type 2. Hämostaseologie 29:143–148PubMed Schneppenheim R, Budde U, Beutel K, Hassenpflug W-A, Hauch H, Obser T, Oyen F, Schneppenheim S, Schrum J (2009) Response to DDAVP in children with von Willebrand disease type 2. Hämostaseologie 29:143–148PubMed
Metadata
Title
p.P2063S: a neutral VWF variant masquerading as a mutation
Authors
Daniel J. Hampshire
Anne C. Goodeve
Publication date
01-03-2014
Publisher
Springer Berlin Heidelberg
Published in
Annals of Hematology / Issue 3/2014
Print ISSN: 0939-5555
Electronic ISSN: 1432-0584
DOI
https://doi.org/10.1007/s00277-013-1817-y

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