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 language | English |
|---|---|
| Pages (from-to) | 997-999 |
| Number of pages | 3 |
| Journal | Haematologica |
| Volume | 90 |
| Issue number | 7 |
| Publication status | Published - Jul 2005 |
Keywords
- Duplication
- Exon 13
- Factor VIII
- Hemophilia A
- Skipping
ASJC Scopus subject areas
- Hematology
Fingerprint Dive into the research topics of 'Exon skipping partially restores factor VIII coagulant activity in patients with mild hemophilia A with exon 13 duplication'. Together they form a unique fingerprint.
Cite this
Acquila, M., Pasino, M., Lanza, T., Molinari, A. C., Rosano, C., & Bicocchi, M. P. (2005). Exon skipping partially restores factor VIII coagulant activity in patients with mild hemophilia A with exon 13 duplication. Haematologica, 90(7), 997-999.