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/lp/karger/gene-mutations-and-inhibitor-formation-in-patients-with-hemophilia-b-Mo5UCiPzKo
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- Publisher
- Karger
- Copyright
- © 1995 S. Karger AG, Basel
- ISSN
- 0001-5792
- eISSN
- 1421-9662
- DOI
- 10.1159/000204029
- Publisher site
- See Article on Publisher Site
Abstract
The nature of the mutation in the factor IX gene is an important factor in determining whether a patient with hemophilia B will develop an inhibitor. In a series of 62 Swedish families with hemophilia B, including 30 with the severe form, approximately one third of the families exhibiting deletions or nonsense mutations contained one member who developed an inhibitor. The risk for inhibitor development in family members carrying missense mutations was virtually zero.
Journal
Acta Haematologica – Karger
Published: Jan 1, 1995
Keywords: Missense mutations; Nonsense mutations; Deletions; Exon; Factor IX; Hemophilia B; Inhibitors