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Article

In situ genetic correction of F8 intron 22 inversion in hemophilia A patient-specific iPSCs

8 Jan 2016

Abstract excerpt

Nearly half of severe Hemophilia A (HA) cases are caused by F8 intron 22 inversion (Inv22). This 0.6-Mb inversion splits the 186-kb F8 into two parts with opposite transcription directions. The inverted 5' part (141 kb) preserves the first 22 exons that are driven by the intrinsic F8 promoter, leading to a truncated F8 transcript due to the lack of the last 627 bp coding sequence of exons 23-26. Here we describe...

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PMID: 26743572
DOI: 10.1038/srep18865

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