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

Developing a new generation of tests for genotyping hemophilia-causative rearrangements involving int22h and int1h hotspots in the factor VIII gene.

Journal of thrombosis and haemostasis : JTH - 1 May 2008

Rossetti L C, Radic C P, Larripa I B, De Brasi C D

Abstract excerpt

BACKGROUND: Inversions of F8-intron 22 (Inv22) and F8-intron 1 (Inv1) are responsible for 45-50% of severe hemophilia A cases. OBJECTIVE: In order to improve the molecular diagnosis of Inv22 and Inv1, and to enable rapid discrimination of Inv22-type 1 and Inv22-type 2 patterns, int22h-mediated deletions (Del22) and duplications (Dup22), we developed a genotyping system based on a novel inverse shifting-polymerase...

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 DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Factor VIII

Share to Gene Rearrangement

Share to Genotype

Share to Hemophilia A

Share to Polymerase Chain Reaction

Source

Identifiers

PMID: 18284600
DOI: 10.1111/j.1538-7836.2008.02926.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Developing a new generation of tests for genotyping hemophilia-causative rearrangements involving int22h and int1h hotspots in the factor VIII gene.PMID 18284600Read ↗

Eighteen years of molecular genotyping the hemophilia inversion hotspot: from southern blot to inverse shifting-PCR.Semantic proximity Read ↗

Genotyping the hemophilia inversion hotspot by use of inverse PCR.Semantic proximity Read ↗

Inverse shifting PCR based prenatal diagnosis of hemophilia-causative inversions involving int22h and int1h hotspots from chorionic villus samples.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 ↗

Application of a molecular diagnostic algorithm for haemophilia A and B using next-generation sequencing of entire F8, F9 and VWF genes.Semantic proximity Read ↗

Comprehensive Analysis of Hemophilia A (CAHEA): Towards Full Characterization of the F8 Gene Variants by Long-Read Sequencing.Semantic proximity Read ↗

Molecular genetic testing of hemophilia A.Semantic proximity Read ↗

Xq28 duplication not F8 inversion: integrated genetic reanalysis redefines prenatal carrier diagnosis.Semantic proximity Read ↗

[FVIII intron 22 homologous region mediated recombinations and genotyping methods of hemophilia A].Semantic proximity Read ↗

Separation of intron 22 inversion type 1 and 2 of hemophilia A by modified inverse-shifting polymerase chain reaction and capillary gel electrophoresis.Semantic proximity Read ↗

Genomic alterations in the F8 gene correlating with severe hemophilia A in Egyptian patients.Semantic proximity Read ↗

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

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