First Clinicogenetic Description of Parkinson's Disease Related to Mutation S107L.

PMID:30949558
Hertz E , Thörnqvist M , Holmberg B , Machaczka M , Sidransky E , Svenningsson P
Mutations in the glucocerebrosidase gene () are a common genetic risk factor for Parkinson's disease (PD). Mutations in the N-terminus part of are less commonly found in association with PD than those in the C-terminus. Phenotypic characterization of -related PD has been challenging, in part attributed to differential impact of distinct mutations.


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