The Glu117stop mutation in the factor XI (FXI) gene is the most common cause of FXI deficiency and might cause the disease either by poor secretion/stability of the truncated protein or by decreased mRNA levels. Platelet- and lymphocyte-derived mRNA from three Glu117stop heterozygotes were analyzed by reverse-transcriptase polymerase chain reaction and sequencing, demonstrating allele-specific reduction of FXI Glu117stop mRNA.
|Titolo:||A type II mutation (Glu117stop), induction of allele-specific mRNA degradation and factor XI deficiency|
|Data di pubblicazione:||2005|
|Appare nelle tipologie:||1.1 Articolo in rivista|