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

Origin of mutation in sporadic cases of haemophilia A.

British journal of haematology - 1 Sept 1999

Ljung R C, Sjörin E

Abstract excerpt

The aim of this study was to define the origin of mutation in sporadic cases of severe haemophilia A. The series was composed of 31 families with sporadic severe haemophilia A in the geographical catchment area of the Malmö haemophilia centre. The mutation was characterized in 29/31 families: inversion type 1 (n = 11), inversion type 2 (n = 3), other inversion (n = 1), small or partial deletion (n = 6), insertion...

Read the complete abstract on PubMed

Topics

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

Share to Chromosome Inversion
Share to Factor VIII
Share to Gene Deletion

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

Share to Hemophilia A

Share to Mutation

Share to Pedigree

Source

Identifiers

PMID: 10519986
DOI: 10.1046/j.1365-2141.1999.01631.x

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

Origin of mutation in sporadic cases of haemophilia A.PMID 10519986Read ↗

Origin of mutation in sporadic cases of severe haemophilia A in Sweden.Semantic proximity Read ↗

Origin of mutation in sporadic cases of haemophilia-B.Semantic proximity Read ↗

Spectrum and origin of mutations in sporadic cases of haemophilia A in China.Semantic proximity Read ↗

De Novo Noninversion Variants Implicated in Sporadic Hemophilia A: A Variant Origin and Timing Study.Semantic proximity Read ↗

Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies.Semantic proximity Read ↗

Origin of Swedish hemophilia A mutations.Semantic proximity Read ↗

Spectrum of causative mutations in patients with haemophilia A in Austria.Semantic proximity Read ↗

Grandpaternal mosaicism in a family with isolated haemophilia A.Semantic proximity Read ↗

More than half the sporadic cases of hemophilia A in Sweden are due to a recent mutation.Semantic proximity Read ↗

Somatic origin of inherited haemophilia A.Semantic proximity Read ↗

Somatic mosaicism in hemophilia A: a fairly common event.Semantic proximity Read ↗

Importance of investigating somatic and germline mutations in hemophilia A: a preliminary study from All India Institute of Medical Sciences, India.Semantic proximity Read ↗

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