Mutation screening and burden analysis of VPS13C in Chinese patients with early-onset Parkinson's disease
Xiaojing Gu, Chunyu Li, Yongping Chen, Ruwei Ou, Bei Cao, Qianqian Wei, Yanbing Hou, Lingyu Zhang, Wei Song, Bi Zhao, Ying Wu, Huifang Shang
Topics & Concepts
Compound heterozygosityMissense mutationNonsense mutationGeneticsParkinsonismMutationExome sequencingAlleleBiologyPathogenesisNonsenseMedicineDiseaseGeneInternal medicineParkinson's Disease Mechanisms and TreatmentsLysosomal Storage Disorders ResearchNeurological diseases and metabolism