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Publication Name World Journal of Hematology
Manuscript ID 2626
Country Netherlands
Received
2013-03-04 17:26
Peer-Review Started
2013-03-05 16:23
To Make the First Decision
2013-05-02 10:32
Return for Revision
2013-05-17 15:35
Revised
Second Decision
2013-08-06 08:33
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief
2013-08-06 11:40
Articles in Press
Publication Fee Transferred
Edit the Manuscript by Language Editor
Typeset the Manuscript
2013-09-29 14:13
Publish the Manuscript Online
2013-11-04 12:36
ISSN 2218-6204 (online)
Open Access
Copyright
Article Reprints For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
Permissions For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
Publisher Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
Website http://www.wjgnet.com
Category Hematology
Manuscript Type Editorial
Article Title Pseudohemophilia of Erik von Willebrand caused by homozygous one nucleotide deletion in exon 18 of the VW-factor gene
Manuscript Source Invited Manuscript
All Author List Alain Gadisseur, Zwi Berneman, Wilfried Schroyens and Jan Jacques Michiels
Funding Agency and Grant Number
Corresponding Author Jan Jacques Michiels, Professor, Goodheart Institute and Foundation, Bloodcoagulation and Vascular Medicine Center, Erasmus Tower, Veenmos 13, 3069 AT Rotterdam, The Netherlands. goodheartcenter@upcmail.nl
Key Words Autosomal recessive von Willebrand disease type 3 and 1; Molecular etiology; Carrier of von Willebrand disease null or missense allele; Desmopressin acetate responses
Core Tip The novel lethal bleeding disorder described as “Hereditary Pseudohemophilia by von Willebrand (VW) in 1926 is caused by a homozygous nonsense mutation (one nucleotide deletion in exon 18) of the VW-factor gene consistent with autosomal recessive VW disease (VWD) type 3. Heterozygous carriers presented with VWD type 1 with variable penetrance of mild mucocutaneous bleeding manifestations. The present editorial reviews the clinical, laboratory and molecular features of severe recessive type 1 and 3 VWD and obligate heterozygous carriers of VWF nonsense and missense mutations.
Publish Date 2013-11-04 12:36
Citation Gadisseur A, Berneman Z, Schroyens W, Michiels JJ. Pseudohemophilia of Erik von Willebrand caused by homozygous one nucleotide deletion in exon 18 of the VW-factor gene. World J Hematol 2013; 2(4): 99-108
URL http://www.wjgnet.com/2218-6204/full/v2/i4/99.htm
DOI http://dx.doi.org/10.5315/wjh.v2.i4.99
Full Article (PDF) WJH-2-99.pdf
Manuscript File 2626-Review.doc
Answering Reviewers 2626-Answering reviewers.pdf
Peer-review Report 2626-Peer review(s).pdf
Scientific Editor Work List 2626-Scientific editor work list.doc