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Article

Identification of a third rearrangement at Xq28 that causes severe hemophilia A as a result of homologous recombination between inverted repeats.

Journal of thrombosis and haemostasis : JTH - 1 Aug 2012

Pezeshkpoor B, Rost S, Oldenburg J, El-Maarri O

Abstract excerpt

BACKGROUND: Intrachromosomal homologous recombination between inverted repeats on the X chromosome account for about half of severe hemophilia A cases. Repeats in F8 intron 1 and intron 22 can recombine with homologous inverted repeats located about 200 kb upstream and 500 kb downstream of F8, respectively, resulting in partial sequence inversion of the F8 open reading frame and, subsequently, no functional...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22672522
DOI: 10.1111/j.1538-7836.2012.04809.x

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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.

Related research

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Identification of a third rearrangement at Xq28 that causes severe hemophilia A as a result of homologous recombination between inverted repeats.PMID 22672522Read ↗

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

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