Exon skipping partially restores factor VIII coagulant activity in patients with mild hemophilia A with exon 13 duplication

Maura Acquila, Mirella Pasino, Tiziana Lanza, Angelo Claudio Molinari, Camillo Rosano, Maria Patrizia Bicocchi

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)997-999
Number of pages3
JournalHaematologica
Volume90
Issue number7
Publication statusPublished - Jul 2005

Keywords

  • Duplication
  • Exon 13
  • Factor VIII
  • Hemophilia A
  • Skipping

ASJC Scopus subject areas

  • Hematology

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