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Article

Unusual genomic rearrangements in introns 1 and 22 of the F8 gene.

Hamostaseologie - 1 Nov 2011

Zimmermann M A, Oldenburg J, Müller C R, Rost S

Abstract excerpt

UNLABELLED: Intron 1 and intron 22 inversions, two large rearrangements of the factor VIII gene, are generally associated with a severe phenotype of haemophilia A and a high risk of inhibitor formation. In several haemophiliacs, diagnostic analyses for detection of these inversions revealed unusual band patterns. Upon further examination, different copy number variations were detected in the factor VIII gene of...

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Share to Chromosome Inversion
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 22057311

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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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