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

De novo factor VIII gene intron 22 inversion in a female carrier presents as a somatic mosaicism.

Blood - 15 Oct 2000

Oldenburg J, Rost S, El-Maarri O, Leuer M, Olek K, Müller C R, Schwaab R

Abstract excerpt

The intron 22 inversion represents the most prevalent factor VIII gene defect in severe hemophilia A, accounting for about 40% of all mutations. It is hypothesized that the inversion mutations occur almost exclusively in germ cells during meiotic cell division by intrachromosomal recombination be...

Read the complete abstract on PubMed

Topics

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

Share to Blotting, Southern
Share to Chromosome Inversion
Share to Factor VIII

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hemophilia A

Share to Introns

Share to Meiosis

Share to Mitosis

Share to Mosaicism

Source

Identifiers

PMID: 11023529

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-11023529-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

De novo factor VIII gene intron 22 inversion in a female carrier presents as a somatic mosaicism.PMID 11023529Read ↗

De novo factor VIII gene intron 22 inversion in a female carrier presents as a somatic mosaicismSemantic proximity Read ↗

Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A.Semantic proximity Read ↗

Female haemophiliac homozygous for the factor VIII intron 22 inversion mutation, with transcriptional inactivation of one of the factor VIII alleles.Semantic proximity Read ↗

Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cellsSemantic proximity Read ↗

Factor VIII gene inversions in severe hemophilia A patients.Semantic proximity Read ↗

Molecular diagnosis of inversions resulting from intron 22 rearrangement of F8 gene in a patients with hemophilia A and their families and genotype-phenotype association analysisSemantic proximity Read ↗

Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctionsSemantic proximity Read ↗

Noncarrier mothers of hemophilia A patients with Intron 22 inversions often have other rearrangements.Semantic proximity Read ↗

F8 intron 22 inversions and SNP rs73563631 in unrelated families with severe haemophilia A: clinical features and gene testing implications.Semantic proximity Read ↗

Severe hemophilia A in a Japanese female caused by an F8-intron 22 inversion associated with skewed X chromosome inactivation.Semantic proximity Read ↗

A possible mechanism for Inv22-related F8 large deletions in severe hemophilia A patients with high responding factor VIII inhibitors.Semantic proximity Read ↗

Review of molecular mechanisms at distal Xq28 leading to balanced or unbalanced genomic rearrangements and their phenotypic impacts on hemophilia.Semantic proximity Read ↗

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