Search
Now showing items 1-5 of 5
A common VWF exon 28 haplotype in the Turkish population
(Elsevier, 2013)
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 ...
A Review of Functional Characterization of Single Amino Acid Change Mutations in HNF Transcription Factors in MODY Pathogenesis
(Springer, 2021)
Mutations in HNF transcription factor genes cause the most common subtypes of maturity-onset of diabetes of youth (MODY), a monogenic form of diabetes mellitus. Mutations in the HNF1-alpha, HNF4-alpha, and HNF1-beta genes ...
SCN1A gene sequencing in 46 Turkish epilepsy patients disclosed 12 novel mutations
(Elsevier, 2016)
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 ...
Genes and molecular mechanisms involved in the epileptogenesis of idiopathic absence epilepsies
(Elsevier, 2012)
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 ...
Synthesis, Characterization and Biocompatibility Oo Plant-Oil Based Hydrogels
(Trakya University, 2021)
Biocompatible hydrogels are used in a variety of biomedical applications, including tissue scaffolds, drug delivery systems, lab/organ-on-a-chips, biosensors, cell-culture studies and contact lenses. The demand for novel ...
