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Article

Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctions

1 Jul 1995

Abstract excerpt

A region of intron 22 of the factor VIII gene, which contains factor VIII-associated gene A (F8A), is repeated twice more nearer the Xq telomere. It has been proposed that intrachromosomal homologous recombination occurs between the intron 22 repeat and either of the two extragenic copies, resulting in the recurrent inversions that cause almost half of all cases of severe haemophilia A. We have precisely defined...

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PMID: 8528212
DOI: 10.1093/hmg/4.7.1217

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Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctionsPMID 8528212Read ↗

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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.Semantic proximity Read ↗

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