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Article

Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells

1 Jan 1994

Abstract excerpt

The factor VIII gene, which is defective in hemophilia A, is located in the last megabase of the long arm of the X chromosome. Inversions due to intrachromosomal homologous recombination between mispaired copies of gene A located within intron 22 of the gene and about 500 kb telomeric to it account for nearly half of all cases of severe hemophilia A. We hypothesized that pairing of Xq with its homolog inhibits...

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PMID: 7981669
DOI: 10.1093/hmg/3.7.1035

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