Article

De novo factor VIII gene intron 22 inversion in a female carrier presents as a somatic mosaicism

2000-10-15

Abstract excerpt

Abstract The intron 22 inversion represents the most prevalentfactor VIII gene defect in severe hemophilia A, accounting for about 40% of all mutations. It is hypothesized that the inversion mutations occur almost exclusively in germ cells during meiotic cell division by intrachromosomal recombination between 1 of 2 telomeric copies of the Int22h region and its intragenic homologue. The majority of inversion mutat...

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Literature Corpus work: af758c9e-87d4-50e4-a1c8-d6dca5871ff6
DOI: 10.1182/blood.v96.8.2905

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