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Article

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

Nature - 1 Jan 2000

Rees D J, Rizza C R, Brownlee G G

Abstract excerpt

Haemophilia B (Christmas disease) is an inherited, recessive, sex-linked, haemorrhagic condition caused by a defect in the intrinsic clotting factor IX. This disease occurs in males at a frequency of approximately 1 in 30,000. Patients differ in the severity of their clinical symptoms, and variat...

Topics

Base Sequence
DNA
Factor IX
Female
Hemophilia A
Humans
Male
Mutation
RNA Splicing

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 4033760
DOI: 10.1038/316643a0

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-4033760-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Click a neighbor to travelStep 1 · 12 closest

Haemophilia B caused by a point mutation in a donor splice junction of the human factor IX gene.PMID 4033760Read ↗

Splice junction mutations in factor IX gene resulting in severe hemophilia B.Semantic proximity Read ↗

T296----M, a common mutation causing mild hemophilia B in the Amish and others: founder effect, variability in factor IX activity assays, and rapid carrier detection.Semantic proximity Read ↗

Two mutations of the factor IX gene including a donor splice consensus deletion and a point mutation in a Dutch patient with severe hemophilia B.Semantic proximity Read ↗

Haemophilia B caused by mutation of a potential thrombin cleavage site in factor IX.Semantic proximity Read ↗

CG dinucleotide transitions in the factor IX gene account for about half of the point mutations in hemophilia B patients: a Seattle series.Semantic proximity Read ↗

Reported in vivo splice-site mutations in the factor IX gene: severity of splicing defects and a hypothesis for predicting deleterious splice donor mutations.Semantic proximity Read ↗

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

Amino acid substitutions in conserved domains of factor VIII and related proteins: study of patients with mild and moderately severe hemophilia A.Semantic proximity Read ↗

Genetics and molecular biology of haemophilias A and B.Semantic proximity Read ↗

Molecular diagnostics of 15 hemophilia A patients: characterization of eight novel mutations in the factor VIII gene, two of which result in exon skipping.Semantic proximity Read ↗

Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene.Semantic proximity Read ↗

Evidence that descendants of three founders constitute about 25% of hemophilia B in the United States.Semantic proximity Read ↗

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