Molecular Etiology and Laboratory Phenotypes of Recessive Von Willebrand Disease 2N Due to Mutations in the D’D3 Factor VIII-Binding Domain of the Von Willebrand Factor Gene: A Critical Appraisal of the Literature and Personal Experiences

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14110%2F19%3A00111677" target="_blank" >RIV/00216224:14110/19:00111677 - isvavai.cz</a>

Result on the web

<a href="https://www.actascientific.com/ASMS/pdf/ASMS-03-0483.pdf" target="_blank" >https://www.actascientific.com/ASMS/pdf/ASMS-03-0483.pdf</a>

DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Molecular Etiology and Laboratory Phenotypes of Recessive Von Willebrand Disease 2N Due to Mutations in the D’D3 Factor VIII-Binding Domain of the Von Willebrand Factor Gene: A Critical Appraisal of the Literature and Personal Experiences

Original language description

The FVIII binding site on von Willebrand factor (VWF) is located in the D’ (766-864) and D3 (1054-1060) regions of the VWF gene. The cysteine residues in the D’ domain form disulfide bridges within the D’ trypsin-inhibitor-like (TIL’) and E’ regions,and these are of critically importance for the binding between TIL’E’ and FVIII. We analyzed the molecular etiology and laboratory phenotype of von Willebrand disease (VWD) 2N patients reported in the literature and added personal experiences from three European VWF VWD Research Centers.

Czech name

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Czech description

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Type

J_ost - Miscellaneous article in a specialist periodical

CEP classification

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OECD FORD branch

30101 - Human genetics

Project

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Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2019

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Acta Scientific Medical Sciences

ISSN

2582-0931

e-ISSN

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Volume of the periodical

3

Issue of the periodical within the volume

12

Country of publishing house

IN - INDIA

Number of pages

19

Pages from-to

140-158

UT code for WoS article

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EID of the result in the Scopus database

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