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Article

Mutation analysis of a cohort of US patients with hemophilia B.

American journal of hematology - 1 Apr 2014

Li Tengguo, Miller Connie H, Driggers Jennifer, Payne Amanda B, Ellingsen Dorothy, Hooper W Craig

Abstract excerpt

Hemophilia B (HB) is a disorder resulting from genetic mutations in the Factor 9 gene (F9). Genotyping of HB patients is important for genetic counseling and patient management. Here we report a study of mutations identified in a large sample of HB patients in the US. Patients were enrolled through an inhibitor surveillance study at 17 hemophilia treatment centers. A total of 87 unique mutations were identified...

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PMID: 24375831
DOI: 10.1002/ajh.23645
PMCID: PMC4504203

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