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Articles Published Processes
9/10/2014 2:33:00 PM | Browse: 923 | Download: 582
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Received |
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2013-03-04 17:26 |
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Peer-Review Started |
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2013-03-05 16:23 |
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To Make the First Decision |
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2013-05-02 10:32 |
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Return for Revision |
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2013-05-17 15:35 |
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Revised |
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Second Decision |
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2013-08-06 08:33 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Executive Editor-in-Chief |
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2013-08-06 11:40 |
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Articles in Press |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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Typeset the Manuscript |
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2013-09-29 14:13 |
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Publish the Manuscript Online |
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2013-11-04 12:36 |
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
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Manuscript Source |
Invited Manuscript |
All Author List |
Alain Gadisseur, Zwi Berneman, Wilfried Schroyens and Jan Jacques Michiels |
Funding Agency and Grant Number |
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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
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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.
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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 |
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