Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

British journal of haematology - 1 Feb 1991

Royle G, Van de Water N S, Berry E, Ockelford P A, Browett P J

Abstract excerpt

Haemophilia B Leyden is characterized by severe factor IX deficiency during childhood with partial resolution at puberty or following the administration of anabolic steroids. The disorder has recently been associated with point mutations in the putative factor IX promoter region, which contains an imperfect direct repeat spanning a possible start site of transcription. We have identified a T to C transition at...

Topics

Adult
Base Sequence
Factor IX
Female
Hemophilia B
Humans
Male
Molecular Sequence Data
Mutation
Pedigree
Polymerase Chain Reaction
Promoter Regions, Genetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 2004020
DOI: 10.1111/j.1365-2141.1991.tb07976.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2004020-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Haemophilia B Leyden arising de novo by point mutation in the putative factor IX promoter region.PMID 2004020Read ↗

Nucleotide substitutions at the -6 position in the promoter region of the factor IX gene result in different severity of hemophilia B Leyden: consequences for genetic counseling.Semantic proximity Read ↗

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

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

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

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

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

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

Haemophilia B caused by a point mutation in a donor splice junction of the human factor IX gene.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 ↗

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

⌁Select a neighboring publication to make it the new centre.