Toplam kayıt 3, listelenen: 1-3
A common VWF exon 28 haplotype in the Turkish population
An increasing number of mutations and polymorphisms have been identified in the von Willebrand factor (VWF) gene of patients with von Willebrand disease (VWD). Most of the sequence alterations are within exon 28, duplicated ...
Genes and molecular mechanisms involved in the epileptogenesis of idiopathic absence epilepsies
Idiopathic absence epilepsies (IAE), that have high prevalence particularly among children and adolescents, are complex disorders mainly caused by genetic factors. Childhood absence epilepsy and juvenile absence epilepsy ...
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 ...