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Two allotypes of fa...
Two allotypes of factor IX present in haemophilia B
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- Ljung, R. (author)
- Skåne University Hospital
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- Wallmark, A. (author)
- Lund University,Lunds universitet,Internmedicin - epidemiologi,Forskargrupper vid Lunds universitet,Internal Medicine - Epidemiology,Lund University Research Groups,Skåne University Hospital
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Nilsson, Inga Marie (author)
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(creator_code:org_t)
- 2009-04-24
- 1986
- English.
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In: Scandinavian Journal of Haematology. - : Wiley. - 0036-553X. ; 37:5, s. 411-416
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Abstract
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- Factor IX antigen (IX:Ag) was measured with three different immunoradiometric assays (IRMAs) in 30 healthy people and 43 patients with haemophilia B of varying severity. Two of the IRMAs were based on monoclonal antibodies capable of differentiating between two genetically determined molecular variants of normal factor IX. Most patients with severe hemophilia B lacked demonstrable IX:Ag. The factor IX variant that is undetectable with one of the monoclonal antibodies used was present in 2 out of 6 families with moderate haemophilia B and in 1 out of 6 families with mild haemophilia B. The existence of allotypes of factor IX in hemophilia B may have practical implications for carrier detection and prenatal diagnosis.
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- art (subject category)
- ref (subject category)
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