De novo factor VIII gene intron 22 inversion in a female carrier presents as a somatic mosaicism
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 betwee...
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| Main Author: | El Maarri, Osman (author) |
|---|---|
| Other Authors: | Oldenburg, Johannes (author), Rost, Simone (author), Leuer, Marco (author), Olek, Klaus (author), Muller, Clemen R. (author), Schwaab, Rainer (author) |
| Format: | article |
| Published: |
2000
|
| Online Access: | http://hdl.handle.net/10725/6163 http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php http://www.bloodjournal.org/content/96/8/2905.short?sso-checked=true |
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