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Article

Factor VIII gene inversions in severe hemophilia A patients.

Pathology - 1 Jan 1995

Van de Water N S, Williams R, Nelson J, Browett P J

Abstract excerpt

The mutations causing hemophilia A are very heterogeneous with the exception of a large inversion involving intron 22 in the factor VIII (FVIII) gene which appears to be the underlying defect in approximately 45% of all severely affected patients (FVIII < or = 1%). In these patients it is thought that the factor VIII gene is disrupted within intron 22 due to inappropriate recombination of FVIIIA with one of 2...

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Identifiers

PMID: 7603762
DOI: 10.1080/00313029500169542

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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.

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Research trail→

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Factor VIII gene inversions in severe hemophilia A patients.PMID 7603762Read ↗

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

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

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 ↗

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

Spectrum of mutations in Albanian patients with haemophilia A: identification of ten novel mutations in the factor VIII gene.Semantic proximity Read ↗

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

Molecular genotyping of hemophilia A in Saudi Arabia: report of 2 novel mutations.Semantic proximity Read ↗

Identification of factor VIII gene mutations in patients with severe haemophilia A in Venezuela: identification of seven novel mutations.Semantic proximity Read ↗

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

Site and type of mutations in the factor VIII gene in patients and carriers of haemophilia A.Semantic proximity Read ↗

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