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 |
Autori: | |
Data di pubblicazione: | 2005 |
Rivista: | |
Handle: | http://hdl.handle.net/11699/456 |
Appare nelle tipologie: | 1.1 Articolo in rivista |
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