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

Unbalanced X-chromosome inactivation with a novel FVIII gene mutation resulting in severe hemophilia A in a female

15 Dec 2000

Abstract excerpt

This report is of a 14-month-old girl affected with severe hemophilia A. Both her parents had normal values for factor VIII activity, and von Willebrand disease type 2N was excluded. Karyotype analysis demonstrated no obvious alteration, and BclI Southern blot did not reveal F8 gene inversions. Direct sequencing of F8 gene exons revealed a frameshift-stop mutation (Q565delC/ter566) in the heterozygous state in...

Read the complete abstract on PubMed

Topics

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

Share to Cancer-related gene regulation
Share to Hemophilia Treatment and Research
Share to Platelet Disorders and Treatments

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

Source

Identifiers

PMID: 11110718
DOI: 10.1182/blood.v96.13.4373.h8004373_4373_4375

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

Unbalanced X-chromosome inactivation with a novel FVIII gene mutation resulting in severe hemophilia A in a femalePMID 11110718Read ↗

Unbalanced X-chromosome inactivation with a novel FVIII gene mutation resulting in severe hemophilia A in a femaleSemantic proximity Read ↗

Severe haemophilia A in a female resulting from two de novo factor VIII mutations.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 ↗

Molecular Mechanisms of Skewed X-Chromosome Inactivation in Female Hemophilia Patients-Lessons from Wide Genome Analyses.Semantic proximity Read ↗

Six molecular patterns leading to hemophilia A phenotype in 18 females from Poland.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 ↗

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

Haemophilia A in two unrelated females due to F8 gene inversions combined with skewed inactivation of X chromosome.Semantic proximity Read ↗

Female monozygotic twins discordant for hemophilia A due to nonrandom X-chromosome inactivation.Semantic proximity Read ↗

A pericentric inversion of chromosome X disrupting F8 and resulting in haemophilia A.Semantic proximity Read ↗

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

Demonstration of a novel Xp22.2 microdeletion as the cause of familial extreme skewing of X-inactivation utilizing case-parent trio SNP microarray analysis.Semantic proximity Read ↗

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