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Article

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

Blood - 15 Oct 2000

Oldenburg J, Rost S, El-Maarri O, Leuer M, Olek K, Müller C R, Schwaab R

Abstract excerpt

The intron 22 inversion represents the most prevalent factor 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 mutations...

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PMID: 11023529

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De novo factor VIII gene intron 22 inversion in a female carrier presents as a somatic mosaicism.PMID 11023529Read ↗

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