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Article

Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A.

Nature genetics - 1 Nov 1993

Lakich D, Kazazian H H, Antonarakis S E, Gitschier J

Abstract excerpt

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...

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PMID: 8275087
DOI: 10.1038/ng1193-236

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A.PMID 8275087Read ↗

Factor VIII gene inversions in severe hemophilia A patients.Semantic proximity Read ↗

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

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 ↗

Eleven novel mutations in the factor VIII gene from Brazilian hemophilia A patients.Semantic proximity Read ↗

Identification of factor VIII gene mutations in 101 patients with haemophilia A: mutation analysis by inversion screening and multiplex PCR and CSGE and molecular modelling of 10 novel missense substitutions.Semantic proximity Read ↗

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

Factor VIII gene inversions in severe hemophilia A: results of an international consortium studySemantic proximity Read ↗

Spectrum of factor VIII mutations in Arab patients with severe haemophilia A.Semantic proximity Read ↗

Haemophilia A: molecular insights.Semantic proximity Read ↗

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

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

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