Changing insights in the diagnosis and classification of autosomal recessive and dominant von Willebrand diseases 1980-2015

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F65269705%3A_____%2F16%3A00065953" target="_blank" >RIV/65269705:_____/16:00065953 - isvavai.cz</a>
Result on the web
<a href="http://www.wjgnet.com/2218-6204/full/v5/i3/61.htm" target="_blank" >http://www.wjgnet.com/2218-6204/full/v5/i3/61.htm</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.5315/wjh.v5.i3.61" target="_blank" >10.5315/wjh.v5.i3.61</a>

Result language
angličtina
Original language name
Changing insights in the diagnosis and classification of autosomal recessive and dominant von Willebrand diseases 1980-2015
Original language description
The European Clinical Laboratory and Molecular (ECLM) criteria define 10 distinct Willebrand diseases (VWD): recessive type 3, severe 1, 2C and 2N; dominant VWD type 1 secretion/clearance defect, 2A, 2B, 2E, 2M and 2D; and mild type 1 VWD (usually carriers of recessive VWD). Recessive severe 1 and 2C VWD are characterized by secretion and multimerization defects caused by mutations in the D1-D2 domain. Recessive 2N VWD is a mild hemophilia due to D'-FVlH-von Willebrand factor (VWF) binding site mutations. Dominant 2E VWD caused by heterozygous missense mutations in the D3 domain is featured by a secretion-clearance-multimerization VWF defect. Dominant VWD type 2M due to loss of function mutations in the Al domain is characterized by decreased ristocetin-induced platelet aggregation and VWF:RCo, normal VWF multimers and VWF:CB, a poor response of VWF:RCo and good response of VWF:CB to desmopressin (DDAVP).
Czech name
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Czech description
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Publication year
2016
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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