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UnknownUnraveling the effect of silent, intronic and missense mutations on VWF splicing: contribution of next generation sequencing in the study of mRNA.
Large studies in von Willebrand disease patients, including Spanish and Portuguese registries, led to the identification of >250 different mutations. It is a challenge to determine the pathogenic effect of potential splice site mutations on VWF mRNA. This study aimed to elucidate the true eff...
S-EPMC6395343 | biostudies-literature
UnknownMolecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients.
Molecular diagnosis of patients with von Willebrand disease is pending in most populations due to the complexity and high cost of conventional molecular analyses. The need for molecular and clinical characterization of von Willebrand disease in Spain prompted the creation of a multicenter project (P...
S-EPMC5709099 | biostudies-literature
UnknownRole of multimeric analysis of von Willebrand factor (VWF) in von Willebrand disease (VWD) diagnosis: Lessons from the PCM-EVW-ES Spanish project.
The multimeric analysis (MA) of plasma von Willebrand factor (VWF) evaluates structural integrity and helps in the diagnosis of von Willebrand disease (VWD). This assay is a matter of controversy, being considered by some investigators cumbersome and only slightly informative. The centralised study ...
S-EPMC6010290 | biostudies-literature
UnknownEffectiveness of an intensive E-mail based intervention in smoking cessation (TABATIC study): study protocol for a randomized controlled trial.

Background

Intensive interventions on smoking cessation increase abstinence rates. However, few electronic mail (E-mail) based intensive interventions have been tested in smokers and none in primary care (PC) setting. The aim of the present study is to evaluate the effectiveness of an intens...
S-EPMC3648415 | biostudies-literature
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