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The P2RY12 receptor platelet disorder in the Greater Swiss Mountain Dog is a hereditary disease that leaves affected dogs at risk of severe bleeding under surgery or if injured.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 23 |
| Mutation | c.516_518del |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
Informations générales
The P2RY12 receptor platelet disorder in the Greater Swiss Mountain Dog is a hereditary disease that leaves affected dogs at risk of severe bleeding under surgery or if injured. It is caused by a recessive mutation to the P2RY12 gene, and is described as fairly widespread in the breed.
Caractéristiques cliniques
Affected dogs appear mostly normal, with no unusual symptoms. However, experiencing trauma, undergoing surgery or treatment with platelet inhibitors can result in excessive and potentially life-threatening bleeding.
Additional Information
Références
Pubmed ID: 21554368
Year published: 2011
Omia ID: 1564
Omia variant ID: 454