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pubmed-article:16460442pubmed:abstractTextIntrachromosomal, 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, has the same orientation as int22h-1 and, upon recombination with int22h-1, should produce deletions and duplications but not inversions.lld:pubmed
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pubmed-article:16460442pubmed:articleTitleInt22h-related inversions causing hemophilia A: a novel insight into their origin and a new more discriminant PCR test for their detection.lld:pubmed
pubmed-article:16460442pubmed:affiliationDepartment of Medical and Molecular Genetics, King's College School of Medicine, London, UK. richard.bagnall@genetics.kcl.ac.uklld:pubmed
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