Evaluation of factor V mRNA to define the residual factor V expression levels in severe factor V deficiency
oleh: Barbara Lunghi, Mirko Pinotti, Iva Maestri, Angelika Batorova, Francesco Bernardi
| Format: | Article |
|---|---|
| Diterbitkan: | Ferrata Storti Foundation 2008-03-01 |
Deskripsi
We evaluated FV mRNA in severe factor V deficiency caused by the -12T/A IVS18 mutation, activating a cryptic splice site and leading to premature translation termination. Quantitative evaluation of factor V cDNA from homozygous and heterozygous subjects, and correction for nonsense mediated decay, suggested the presence of 0.1% of normal factor V mRNA.