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

Absence of correlation between X chromosome inactivation pattern and plasma concentration of factor VIII and factor IX in carriers of haemophilia A and B.

Thrombosis and haemostasis - 1 Mar 2000

Orstavik K H, Scheibel E, Ingerslev J, Schwartz M

Abstract excerpt

Haemophilia A and B are X-linked disorders which are due to a reduced activity of coagulation factor VIII or IX, respectively. Female carriers have a wide range of plasma concentration of factor VIII or factor IX, and may in rare cases have an affected phenotype. In order to investigate if this variation is related to X chromosome inactivation, we determined the X inactivation pattern in 31 haemophilia A and 15...

Read the complete abstract on PubMed

Topics

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

Share to Dosage Compensation, Genetic
Share to Factor IX

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

Share to Factor VIII

Share to Haplotypes

Share to Hemophilia A

Share to Hemophilia B

Share to Heterozygote

Share to Point Mutation

Source

Identifiers

PMID: 10744150

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

Absence of correlation between X chromosome inactivation pattern and plasma concentration of factor VIII and factor IX in carriers of haemophilia A and B.PMID 10744150Read ↗

X Chromosome inactivation: a modifier of factor VIII and IX plasma levels and bleeding phenotype in Haemophilia carriers.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 ↗

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

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

X-inactivation patterns in carriers of X-linked myotubular myopathy.Semantic proximity Read ↗

Phenotype-genotype correlations in hemophilia A carriers are consistent with the binary role of the phase between F8 and X-chromosome inactivation.Semantic proximity Read ↗

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

Moderate haemophilia B in a female carrier caused by preferential inactivation of the paternal X chromosome.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 ↗

X chromosome inactivation in carriers of Barth syndrome.Semantic proximity Read ↗

Haemophilia A and cardiovascular morbidity in a female SHAM syndrome carrier due to skewed X chromosome inactivationSemantic proximity Read ↗

Quantification of X-chromosome inactivation patterns in haematological samples using the DNA PCR-based HUMARA assay.Semantic proximity Read ↗

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