Discover Community Create You

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

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots.

Nature - 1 Jan 2000

Youssoufian H, Kazazian H H, Phillips D G, Aronis S, Tsiftis G, Brown V A, Antonarakis S E

Abstract excerpt

Haemophilia A is a common disorder of blood coagulation caused by a deficiency of factor VIII. It is inherited as an X-linked recessive trait, and one-third of all cases are thought to result from de novo mutations. The clinical severity of haemophilia A varies markedly among different families and a subset of the patients with severe disease develop antibodies against factor VIII, called inhibitors. Because of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Base Composition
Share to DNA
Share to Exons

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Factor VIII

Share to Hemophilia A

Share to Mutation

Share to Pedigree

Source

Identifiers

PMID: 3097553
DOI: 10.1038/324380a0

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

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots.PMID 3097553Read ↗

Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene.Semantic proximity Read ↗

The incidence and distribution of CpG----TpG transitions in the coagulation factor IX gene. A fresh look at CpG mutational hotspots.Semantic proximity Read ↗

Recurrent mutations in the factor IX gene: founder effect or repeat de novo events. Investigation of the German haemophilia B population and review of de novo mutations.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 ↗

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

The pattern of spontaneous germ-line mutation: relative rates of mutation at or near CpG dinucleotides in the factor IX gene.Semantic proximity Read ↗

Overrepresentation of missense mutations in mild hemophilia A patients from Belgium: founder effect or independent occurrence?Semantic proximity Read ↗

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

Mutations in the factor IX gene (F9) during the past 150 years have relative rates similar to ancient mutations.Semantic proximity Read ↗

Detection of mutations in ectopic factor VIII transcripts from nine haemophilia A patients and the correlation with phenotype.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 ↗

Haemophilia B in female twins caused by a point mutation in one factor IX gene and nonrandom inactivation patterns of the X-chromosomes.Semantic proximity Read ↗

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