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Von Willebrand Disease (vWD) is a group of bleeding disorders caused by deficiency in the von Willebrand factor (vWF), which results in poorly functioning blood platelets and can lead to uncontrolled bleeding.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 27 |
| Mutation | c.2186+1G>A |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | vWD III |
Informations générales
Von Willebrand Disease (vWD) is a group of bleeding disorders caused by deficiency in the von Willebrand factor (vWF), which results in poorly functioning blood platelets and can lead to uncontrolled bleeding. Type III (Type 3) vWD is the most severe form of the disease, and is caused by a recessive mutation to the gene vWF. This variant of Type III vWD is found in the ‘Kooikerhondje’. Related variants are also found in the Shetland Sheepdog and Scottish Terrier.
Caractéristiques cliniques
Affected dogs are susceptible to excessive and possibly life-threatening bleeding after injury or surgery, and may develop spontaneous bleeding. Blood analysis will confirm a lack of von Willebrand factor activity.
Additional Information
Références
Pubmed ID: 9716162
Year published: 1998
Omia ID: 1058
Omia variant ID: 371