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Published in: Annals of Hematology 8/2015

01-08-2015 | Letter to the Editor

Sense, missense, and nonsense: a novel mechanism of premature termination codon (PTC) mutation in a severe von Willebrand disease (VWD) patient

Authors: Priyanka Kasatkar, Bipin Kulkarni, Kanjaksha Ghosh, Shrimati Shetty

Published in: Annals of Hematology | Issue 8/2015

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Excerpt

Dear Editor, …
Literature
1.
go back to reference Mancuso DJ, Tuley EA, Westfield LA, Lester-Mancuso TL, Le Beau MM, Sorace JM, Sadler JE (1991) Human von Willebrand factor gene and pseudogene: structural analysis and differentiation by polymerase chain reaction. Biochemistry 30:253–269PubMedCrossRef Mancuso DJ, Tuley EA, Westfield LA, Lester-Mancuso TL, Le Beau MM, Sorace JM, Sadler JE (1991) Human von Willebrand factor gene and pseudogene: structural analysis and differentiation by polymerase chain reaction. Biochemistry 30:253–269PubMedCrossRef
2.
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 11:261–269PubMedCentralPubMedCrossRef 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 11:261–269PubMedCentralPubMedCrossRef
4.
go back to reference Acquila M, Bottini F, Di Duca M, Vijzelaar R, Molinari AC, Bicocchi MP (2009) Multiplex ligation-dependent probe amplification to detect a large deletion within the von Willebrand gene. Haemophilia 15:1327–1353CrossRef Acquila M, Bottini F, Di Duca M, Vijzelaar R, Molinari AC, Bicocchi MP (2009) Multiplex ligation-dependent probe amplification to detect a large deletion within the von Willebrand gene. Haemophilia 15:1327–1353CrossRef
Metadata
Title
Sense, missense, and nonsense: a novel mechanism of premature termination codon (PTC) mutation in a severe von Willebrand disease (VWD) patient
Authors
Priyanka Kasatkar
Bipin Kulkarni
Kanjaksha Ghosh
Shrimati Shetty
Publication date
01-08-2015
Publisher
Springer Berlin Heidelberg
Published in
Annals of Hematology / Issue 8/2015
Print ISSN: 0939-5555
Electronic ISSN: 1432-0584
DOI
https://doi.org/10.1007/s00277-015-2373-4

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