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

Intron 22 inversions in the Turkish haemophilia A patients: prevalence and haplotype analysis.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 May 1999

El-Maarri O, Kavakli K, Caglayan S H

Abstract excerpt

In about half of the severe haemophilia A cases, the disease is caused by an inversion that split the F.VIII gene into two parts separated by approximately 300-400 kb. Herein, we show that in the Turkish population this inversion mutation accounts for 29% of 141 haemophilia A cases and 42% of severe cases. Most of the inversions are of the distal type (72%) whereas nine were of the proximal type (28%). Haplotype...

Read the complete abstract on PubMed

Topics

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

Share to Introns
Share to Hemophilia A
Share to Factor VIII

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Frequency

Share to Haplotypes

Share to Mutation

Share to Prevalence

Share to Turkey

Source

Identifiers

PMID: 10444283
DOI: 10.1046/j.1365-2516.1999.00307.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

Intron 22 inversions in the Turkish haemophilia A patients: prevalence and haplotype analysis.PMID 10444283Read ↗

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 ↗

Genotyping of intron 22-related rearrangements of F8 by inverse-shifting PCR in Egyptian hemophilia A patients.Semantic proximity Read ↗

Mutational spectrum of F8 gene and prothrombotic gene variants in haemophilia A patients from Southern Italy.Semantic proximity Read ↗

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

Prevalence of intron 1 inversion of cases with hemophilia A in North Indian population.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 ↗

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

Genotype Hemophilia Screening Program Identified 2 Novel Variants Including a Novel Variant (c.5816-2A > G) Causing a Pathogenic Variant of the Factor 8 Gene.Semantic proximity Read ↗

Frequency of intron 1 and 22 inversions of <i>factor VIII</i> gene in Mexican patients with severe hemophilia ASemantic proximity Read ↗

Study of mutations in Jordanian patients with haemophilia A: identification of five novel mutations.Semantic proximity Read ↗

Identification of the Intron 22 and Intron 1 Inversions of the Factor VIII Gene in Iraqi Kurdish Patients With Hemophilia A.Semantic proximity Read ↗

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

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