A new alpha-synuclein missense variant (Thr72Met) in two Turkish families with Parkinson's disease
Christina Fevga, Yangshin Park, Ebba Lohmann, Anneke J.A. Kievit, Guido J. Breedveld, Federico Ferraro, Leon de Boer, Rick van Minkelen, Haşmet Hanağası, Agnita J.W. Boon, Wei Wang, Gregory A. Petsko, Quyen Q. Hoang, Murat Emre, Vincenzo Bonifati
Topics & Concepts
Missense mutationGeneticsSanger sequencingBiologyHaplotypeLocus (genetics)In silicoAlpha-synucleinParkinson's diseaseGeneMutationGenotypeDiseaseMedicinePathologyParkinson's Disease Mechanisms and TreatmentsGenomics and Rare DiseasesNeurological diseases and metabolism