Int22h-related inversions causing hemophilia A: a novel insight into their origin and a new more discriminant PCR test for their detection.

@article{Bagnall2006Int22hrelatedIC,
  title={Int22h-related inversions causing hemophilia A: a novel insight into their origin and a new more discriminant PCR test for their detection.},
  author={Richard D Bagnall and F. Giannelli and P. M. Green},
  journal={Journal of thrombosis and haemostasis : JTH},
  year={2006},
  volume={4 3},
  pages={591-8}
}
BACKGROUND Intrachromosomal, homologous recombination of the duplicon int22h-1 with int22h-2 or int22h-3 causes inversions accounting for 45% of severe hemophilia A, hence the belief that int22h-2 and int22h-3 are in opposite orientation to int22h-1. However, inversions involving int22h-2 are five times rarer than those involving its virtually identical copy: int22h-3. Recent sequencing has indicated that int22h-2 and int22h-3 form the internal part of the arms of an imperfect palindrome so… CONTINUE READING

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