ArticleNature genetics1993
Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A.
Article in Nature genetics, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 185 papers, 1 of them a synthesis that pooled it.
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Who cites it
185 citing papers in PubMed, 1 synthesis or guideline pooled it, 793 citations in OpenAlex.
- Hemophilia and von Willebrand's disease: 2. Management. Association of Hemophilia Clinic Directors of Canada.CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne · 1995Guideline
- Trial
- Non-Inversion Variants in Sporadic Hemophilia A Rarely Recur.International journal of molecular sciences · 2026Article
- MLDP-AS: an optimized next-generation sequencing assay for enhanced detection of technically challenging variants in expanded carrier screening.Journal of translational medicine · 2026Article
- Efficient and precise inversion of genomic DNA from large to chromosomal scale.Nature chemical biology · 2026Article
- Translational insights from nonclinical studies of AAV gene therapies for hemophilia: mechanisms underpinning variability and durability of gene expression.Therapeutic advances in hematology · 2026Review
- Genetic analysis ofFrontiers in medicine · 2026Article
- Novel Strategy for Structural Variant Genotyping by Short-Read Genomic Sequencing From Restriction-Circles: Experimental and Bioinformatics Proof-of-Concept.Human mutation · 2026Article
- Spectrum of Factor VIII Gene Variants in 78 Patients with Hemophilia A in Guangxi Province, China, Including Nine Novel Variants: A Descriptive StudyTurkish journal of haematology : official journal of Turkish Society of Haematology · 2025Article
- Gene-Pseudogene Inversions as a Hidden Source of Missing Heritability.medRxiv : the preprint server for health sciences · 2025Article
- Genome-wide diversity of chromosomal inversions and their disease relationships.bioRxiv : the preprint server for biology · 2025Article
- Identification of an F8 complex recombination in Chinese hemophilia a patient using long-read sequencing and optical genome mapping.BMC medical genomics · 2025Article
- Deleterious variants cluster in the A3 domain of factor VIII in people with severe hemophilia A and inhibitors.Research and practice in thrombosis and haemostasis · 2025Article
- A scan of pleiotropic immune mediated disease genes identifies novel determinants of baseline FVIII inhibitor status in hemophilia A.Genes and immunity · 2025Article
- Prevalence and Clinical Correlation of Intron 22 Inversion in Hemophilia A in Northeast India.Cureus · 2025Article
- Noninversion Variants in Sporadic Hemophilia A Originate Mostly from Females.International journal of molecular sciences · 2025Article
- Therapeutic advances in hemophilia: from molecular innovation to patient-centered global care.Frontiers in medicine · 2025Review
- Inverse Shifting-PCR Modified by Capillary Electrophoresis for Detecting F8Life (Basel, Switzerland) · 2024Article
- Characterization of the F8 gene: a silver lining in a dark cloud.Nature reviews. Cardiology · 2024Article
- Unraveling the complex role of MAPT-containing H1 and H2 haplotypes in neurodegenerative diseases.Molecular neurodegeneration · 2024Review
125 more citing papers are in PubMed but not listed here.
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Authors and funding
4 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in the factor VIII gene have been discovered for barely more than half of the examined cases of severe haemophilia A. To account for the unidentified mutations, we propose a model based on the possibility of recombination between homologous sequences located in intron 22 and upstream of the factor VIII gene. Such a recombination would lead to an inversion of all intervening DNA and a disruption of the gene. We present evidence to support this model and describe a Southern blot assay that detects the inversion. These findings should be valuable for genetic prediction of haemophilia A in approximately 45% of families with severe disease.
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