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Factor IX Deficiency
Breed: German Spitz/ Pomeranian
Breeds
Relevance Rating: There is some evidence or research available for these breeds
General
Disease Name
Factor IX Deficiency
OMIA
438
Gene Name
FIX
Mutation
c.[548_552del;553C>T]
Mutation 2
c.731G>A
Mutation 3
c.1253G>A
Test Type
Genetic Disease/Disorder
Details
Blood coagulation problems noted in pregnant/ postpartum females. Some animals prolonged bleeding from injuries/surgeries.
Published
Evans, J.P., Brinkhous, K.M., Brayer, G.D., Reisner, H.M., High, K.A. : Canine Hemophilia-B Resulting from a Point Mutation with Unusual Consequences Proceedings of the National Academy of Sciences of the United States of America 86:10095-10099, 1989. Pubmed reference: 2481310.
Published 2
Brinkhous, K.M., Hedner, U., Garris, J.B., Diness, V., Read, M.S. : Effect of recombinant factor VIIa on the hemostatic defect in dogs with hemophilia A, hemophilia B, and von Willebrand disease. Proc Natl Acad Sci U S A 86:1382-6, 1989. Pubmed reference: 2784006.
Published 3
Nichols, T.C., Hough, C., Agersø, H., Ezban, M., Lillicrap, D. : Canine models of inherited bleeding disorders in the development of coagulation assays, novel protein replacement and gene therapies. J Thromb Haemost 14:894-905, 2016. Pubmed reference: 26924758. DOI: 10.1111/jth.13301.
Body/System/Process
Blood
OMIA Url
Inheritance
XR
