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Article

Hemophilia B caused by five different nondeletion mutations in the protease domain of factor IX.

Blood - 1 Mar 1992

Ludwig M, Sabharwal A K, Brackmann H H, Olek K, Smith K J, Birktoft J J, Bajaj S P

Abstract excerpt

Factor IX is a multidomain protein and is the proenzyme of a serine protease, factor IXa, essential for hemostasis. In this report, we describe the molecular basis of hemophilia B (deficiency of factor IX activity) in five patients who have neither deletions nor rearrangements of the factor IX gene. By enzymatic amplification and sequencing of all exons and promoter regions, the following causative mutation in...

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PMID: 1346975

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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