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Factor VII Deficiency

General

Disease Name
Factor VII Deficiency
OMIA
361
Gene Name
FVII
Mutation
c.407G>A
Mutation 2
c.6385G>A
OMIM
227500
Disease Code
F7
Test Type
Genetic Disease/Disorder
Synonyms/Related Terms
proconvertin deficiency, FVII
Details
Blood coagulation problems noted in pregnant/ postpartum females. Some animals prolonged bleeding from injuries/surgeries.
Published
Callan MB, Aljamali MN, Margaritis P, Griot-Wenk ME, Pollak ES, Werner P, Giger U, High KA. A novel missense mutation responsible for factor VII deficiency in research Beagle colonies. J Thromb Haemost 2006; 4: 2616?22.
Published 2
Carlstrom, LP., Jens, JK., Dobyns, ME., Passage, M., Dickson, PI., Ellinwood, NM. : Inadvertent propagation of factor VII deficiency in a canine mucopolysaccharidosis type I research breeding colony. Comp Med 59:378-82, 2009. Pubmed reference: 19712579.
Body/System/Process
Blood
Inheritance
AR
Gene Name Text
coagulation factor VII (serum prothrombin conversion accelerator)
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