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An assessment of the pathogenic significance of the R924Q von Willebrand factor substitution
Journal of Thrombosis and Haemostasis, 09/25/09
Berber E et al. – Analysis of the patient's VWF mRNA revealed a novel truncated transcript resulting from the activation of a cryptic splice site in exon 28. The presence of a common VWF haplotype in heterozygotes for 924Q with low VWF levels suggests a founder origin for this variant allele that may mark this splicing defect.
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