[HTML][HTML] Int22h‐related inversions causing hemophilia A: a novel insight into their origin and a new more discriminant PCR test for their detection
RD Bagnall, F Giannelli, PM Green - Journal of Thrombosis and …, 2006 - Elsevier
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 that int22h‐2, in the centromeric arm …
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 that int22h‐2, in the centromeric arm …
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