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. 2002 Apr;55(2):127–144. doi: 10.1136/mp.55.2.127

Figure 8.

Figure 8

The intron 22 inversion of the factor VIII gene. (A) The normal configuration of the factor VIII gene and int22h homologues. (B) The distal or the proximal int22h homologue aligns with the intragenic int22h homologue (distal shown here). Homologous recombination takes place. (C) Linearisation of the X chromosome gives a completely disrupted factor VIII gene: exons 1 to 22 are displaced towards the telomere and are orientated in a direction opposite to their normal orientation. A contiguous factor VIII gene transcript running from exon 1 to 26 is no longer possible and severe haemophilia A results.