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A mutation related to Thrombocytopenia in the gene encoding beta1-tubulin is responsible for macrothrombocytopenia in Cavalier King Charles Spaniels.
10 working days
Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Year Published |
General information
A mutation related to Thrombocytopenia in the gene encoding beta1-tubulin is responsible for macrothrombocytopenia in Cavalier King Charles Spaniels. The mutation causes an abnormal protein which reduces the forming of blood platelets but they are larger (mega- or macrothrombocytes), functional is the number of offset by the size.
Clinical features
Affected dogs have no problem with their blood clotting, the clinical relevance is limited by giving an explanation for the presence of macrothrombocytes during routine heamatological examination in some individuals of this breed.
Additional information
References
Pubmed ID: 18466252
Omia ID: 1001
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