Haematologica
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Haematologica, Vol 90, Issue 12, 1716-1718
Copyright © 2005 by Ferrata Storti Foundation

Letter

A type II mutation (Glu117stop), induction of allele-specific mRNA degradation and factor XI deficiency

G Solda, R Asselta, R Ghiotto, ML Tenchini, G Castaman, and S Duga

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.


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