Article
Factor IX Gene (F9) Genotyping Trends and Spectrum of Mutations Identified: A Reference Laboratory Experience.
Seminars in thrombosis and hemostasis - 1 Apr 2018
Perez Botero Juliana, Coon Lea M, Majerus Julie A, Chen Dong, Pruthi Rajiv K
Abstract excerpt
In hemophilia B (HB), factor IX gene (F9) genotyping is used for molecular confirmation of affected individuals, for carrier testing, to facilitate the identification of those at risk for anaphylaxis/inhibitors (associated with large deletions), and to assist in assigning disease severity. Owing to test costs, optimal test utilization involves pre/post-test counseling and appropriate patient and test selection...
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