Article
[FVIII intron 22 homologous region mediated recombinations and genotyping methods of hemophilia A].
Zhongguo shi yan xue ye xue za zhi - 1 Jun 2014
Guo Zhi-Ping, Yang Lin-Hua
Abstract excerpt
The intron 22 inversion is caused by intrachromosomal homologous recombination of the Int22h (intron 22 homologous region) repeats in opposite orientation, accounting for almost 45%-50% of all cases of severe hemophilia A. By contrast, recombinations between similarly oriented int22h repeats in the same chromosome, homologous chromosomes or chromatids may cause deletion or duplication of the intermediate region...
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