Novel compound heterozygous FBXO7 mutations in a family with early onset Parkinson's disease
Oswaldo Lorenzo‐Betancor, Yihan Lin, Ali Samii, Suman Jayadev, Hojoong M. Kim, Katelan Longfellow, B. Jane Distad, Dora Yearout, Ignácio F. Mata, Cyrus P. Zabetian
Topics & Concepts
ProbandMissense mutationParkinsonismGeneticsFrameshift mutationCompound heterozygosityBiologyPhenotypeExonMutationDiseaseGeneMedicinePathologyParkinson's Disease Mechanisms and TreatmentsGenomics and Rare DiseasesNeurological diseases and metabolism