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  • Title: Exon skipping partially restores factor VIII coagulant activity in patients with mild hemophilia A with exon 13 duplication.
    Author: Acquila M, Pasino M, Lanza T, Molinari AC, Rosano C, Bicocchi MP.
    Journal: Haematologica; 2005 Jul; 90(7):997-9. PubMed ID: 15996947.
    Abstract:
    Ectopic mRNA was analyzed by reverse transcriptase polymerase chain reaction (RT-PCR) in patients with duplication of F8 gene exon 13, a mutation which has been demonstrated to be a cause of mild hemophilia A in 32% of Northern Italian subjects. Two different transcripts originate from mutated genomic DNA, due to alternative splice processes. The larger-sized transcript contains both duplicated exons 13, the smaller one contains only one exon 13. The residual FVIII:C activity which accounts for the mild hemophilia A phenotype derives from the latter transcript.
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