Novel mutations in ATP13A2 associated with mixed neurological presentations and iron toxicity due to nonsense-mediated decay
Koray Kırımtay, Benan Temizci, Murat Gültekin, Zühal Yapıcı, Arzu Karabay
Topics & Concepts
Frameshift mutationNonsense mutationMutationNonsense-mediated decayExome sequencingBiologyParkinsonismWestern blotMolecular biologyGeneticsMedicinePathologyRNA splicingMissense mutationGeneDiseaseRNANeurological diseases and metabolismMetabolism and Genetic DisordersGenomics and Rare Diseases