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Article

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

Nature - 31 May 1990

Crossley M, Brownlee G G

Abstract excerpt

Haemophilia B (or Christmas disease) is an inherited, X-linked bleeding disorder caused by mutations in the gene for clotting factor IX. There is a rare class of patients, exemplified by haemophilia B Leyden, who suffer from haemophilia B as children but improve after puberty. In these patients, plasma factor IX concentrations are less than 10% of normal during childhood, but after puberty they gradually rise to...

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Source

Identifiers

PMID: 2342576
DOI: 10.1038/345444a0

Genes

EBP

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Disruption of a C/EBP binding site in the factor IX promoter is associated with haemophilia B.PMID 2342576Read ↗

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

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

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

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

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

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

An A to T transversion at position -5 of the factor IX promoter results in hemophilia B.Semantic proximity Read ↗

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

Christmas disease in a Hovawart family resembling human hemophilia B Leyden is caused by a single nucleotide deletion in a highly conserved transcription factor binding site of the F9 gene promoterSemantic proximity Read ↗

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

A CpG mutational hotspot in a ONECUT binding site accounts for the prevalent variant of hemophilia B Leyden.Semantic proximity Read ↗

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