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SCN1A gene sequencing in 46 Turkish epilepsy patients disclosed 12 novel mutations
Purpose: The SCN1A gene is one of the most commonly mutated human epilepsy genes associated with a spectrum of phenotypes with variable degrees of severity. Despite over 1200 distinct mutations reported, it is still hard ...
Functional characterisation of the type 1 von Willebrand disease candidate VWF gene variants: p. M771I, p. L881R and p. P1413L
(SIMTI Servizi, 2017)
Background. Abnormalities in the biosynthetic pathway or increased clearance of plasma von Willebrand factor (VWF) are likely to contribute to decreased plasma VWF levels in inherited type 1 von Willebrand disease (VWD). ...