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Article

Haemophilia B Leyden: the effect of mutations at position +13 on the liver-specific transcription of the factor IX gene.

Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Jun 1994

Reijnen M J, Maasdam D, Bertina R M, Reitsma P H

Abstract excerpt

Haemophilia B Leyden is characterized by low plasma levels (< or = 1-13% of normal) of blood coagulation factor IX during childhood. After the onset of puberty, plasma factor IX levels gradually rise, probably under the influence of androgens. Single point mutations have been detected in the factor IX promoter at -21, -20, -6, -5, +6, +8 and +13. This paper examines how two of these mutations (a deletion of an A,...

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PMID: 8075306

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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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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Haemophilia B Leyden: the effect of mutations at position +13 on the liver-specific transcription of the factor IX gene.PMID 8075306Read ↗

Disruption of a C/EBP binding site in the factor IX promoter is associated with haemophilia B.Semantic proximity Read ↗

Hemophilia B Leyden: substitution of thymine for guanine at position - 21 results in a disruption of a hepatocyte nuclear factor 4 binding site in the factor IX promoterSemantic proximity Read ↗

Structural and functional basis of the developmental regulation of human coagulation factor IX gene: factor IX Leyden.Semantic proximity Read ↗

Disruption of a binding site for hepatocyte nuclear factor 4 results in hemophilia B Leyden.Semantic proximity Read ↗

Recovery from hemophilia B Leyden: an androgen-responsive element in the factor IX promoter.Semantic proximity Read ↗

Regulatory mechanism of human factor IX gene: protein binding at the Leyden-specific region.Semantic proximity Read ↗

Synergy between transcription factors DBP and C/EBP compensates for a haemophilia B Leyden factor IX mutation.Semantic proximity Read ↗

A single base pair deletion in the promoter region of the factor IX gene is associated with haemophilia B.Semantic proximity Read ↗

Further evidence for the importance of an androgen response element in the factor IX promoter.Semantic proximity Read ↗

Hemophilia B Leyden and once mysterious cis-regulatory mutations.Semantic proximity Read ↗

Haemophilia B Brandenberg-type promoter mutation.Semantic proximity Read ↗

Haemophilia B Leyden arising de novo by point mutation in the putative factor IX promoter region.Semantic proximity Read ↗

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