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Article

Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A.

Blood - 1 Jan 2002

Bagnall Richard D, Waseem Naushin, Green Peter M, Giannelli Francesco

Abstract excerpt

The messenger RNA (mRNA) from 5 of 69 patients with severe hemophilia A did not support amplification of complementary DNA containing the first few exons of the factor VIII (F8) gene but supported amplification of mRNA containing exon 1 of F8 plus exons of the VBP1 gene. This chimeric mRNA signals an inversion breaking intron 1 of the F8 gene. Using an inversion patient, one deleted for F8 exons 1 to 6, and...

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Share to Chromosome Inversion
Share to Factor VIII
Share to Hemophilia A

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Introns

Share to Recombination, Genetic

Share to Repetitive Sequences, Nucleic Acid

Share to Reverse Transcriptase Polymerase Chain Reaction

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Source

Identifiers

PMID: 11756167
DOI: 10.1182/blood.v99.1.168

Genes

VBP1

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.

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Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A.PMID 11756167Read ↗

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