Mutations in the glucocerebrosidase gene are common in patients with Parkinson's disease from Eastern Canada.

@article{Han2016MutationsIT,
  title={Mutations in the glucocerebrosidase gene are common in patients with Parkinson's disease from Eastern Canada.},
  author={Fabin Han and DavidA. Grimes and Fang Li and Ting Wang and Zhe Yu and Na Song and Shichao Wu and Lemuel Jean Racacho and Dennis E. Bulman},
  journal={The International journal of neuroscience},
  year={2016},
  volume={126 5},
  pages={
          415-21
        }
}
BACKGROUND Mutations in the β-glucocerebrosidase gene (GBA) have been implicated as a risk factor for Parkinson's disease (PD). However, GBA mutations in PD patients of different ethnic origins were reported to be inconsistent. METHODS We sequenced all exons of the GBA gene in 225 PD patients and 110 control individuals from Eastern Canada. RESULT Two novel GBA variants of c.-119 A/G and S(-35)N, five known GBA mutations of R120W, N370S, L444P, RecNciI and RecTL mutation (del55/D409H… CONTINUE READING
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