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Thrombopathia is a blood disorder caused by a dysfunction of platelets, which are responsible for blood clotting.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 18 |
| Mutation | c.982C>T |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Also known as | Calcium-Diacylglycerol Guanine Nucleotide Exchange Factor I (CalDAG-GEFI) |
Informations générales
Thrombopathia is a blood disorder caused by a dysfunction of platelets, which are responsible for blood clotting. This variant of the disease, which is found in the Landseer, is caused by a recessive mutation to the gene RASGRP2. Related variants have been observed in the Basset Hound and the American Eskimo Dog.
Caractéristiques cliniques
Affected dogs experience epistaxis (nosebleeds), bleeding of the gums, and petechiation on mucous membranes and skin.
Additional Information
Références
Pubmed ID: 17656327
Year published: 2007
Omia ID: 2433
Omia variant ID: