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Scott Syndrome


Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful in this breed


Disease Name
Scott Syndrome
g.8912219 G>A
Test Type
Genetic Disease/Disorder
Scott syndrome is a rare bleeding disorder associated with an inability of stimulated platelets to externalize the negatively charged phospholipid, phosphatidylserine. (Brooks et al, 2010)
Details 2
As summarised by Brooks et al. (2010), the main features of this disorder are "platelets with normal aggregation and secretion, yet specific impairment of stimulated prothrombinase activity, PS externalization, and microvesiculation". (From OMIA)
Brooks, M.B., Catalfamo, J.L., MacNguyen, R., Tim, D., Fancher, S., McCardle, J.A. : A TMEM16F point mutation causes an absence of canine platelet TMEM16F and ineffective activation and death-induced phospholipid scrambling. J Thromb Haemost 13:2240-52, 2015. Pubmed reference: 26414452. DOI: 10.1111/jth.13157.
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