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

Somatic origin of inherited haemophilia A.

Human genetics - 1 Aug 1990

Bröcker-Vriends A H, Briët E, Dreesen J C, Bakker B, Reitsma P, Pannekoek H, van de Kamp J J, Pearson P L

Abstract excerpt

We found a partial deletion of the clotting factor VIII gene of about 2000 bp, spanning exon 5 and part of intervening sequence 4 and 5 in an isolated patient with severe haemophilia A. The mother of the patient, who appeared to be a non-carrier on the basis of coagulation assays and restriction fragment length polymorphism analysis in the family, turned out to be a mosaic for the deletion, not only in her germ...

Read the complete abstract on PubMed

Topics

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

Share to Chromosome Deletion
Share to Chromosome Mapping
Share to Factor VIII

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

Share to Hemophilia A

Share to Mosaicism

Share to Mutation

Share to Pedigree

Share to Polymorphism, Restriction Fragment Length

Source

Identifiers

PMID: 1975557
DOI: 10.1007/BF00206748

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

Somatic origin of inherited haemophilia A.PMID 1975557Read ↗

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

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

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

Grandpaternal mosaicism in a family with isolated haemophilia A.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 ↗

Molecular basis of haemophilia A.Semantic proximity Read ↗

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

Molecular analysis of hemophilia A mutations in the Finnish population.Semantic proximity Read ↗

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

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

Parental origin of factor IX gene mutations, and their distribution in the gene.Semantic proximity Read ↗

Sex ratio of the mutation frequencies in haemophilia A: coagulation assays and RFLP analysis.Semantic proximity Read ↗

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