Rare heterozygous parkin variants in French early-onset Parkinson disease patients and controls.

@article{Lesage2008RareHP,
  title={Rare heterozygous parkin variants in French early-onset Parkinson disease patients and controls.},
  author={Suzanne R Lesage and Ebba Lohmann and Francois Tison and Franck Durif and Alexandra D{\"u}rr and Alexis Brice},
  journal={Journal of medical genetics},
  year={2008},
  volume={45 1},
  pages={43-6}
}
BACKGROUND Mutations in the parkin gene cause autosomal recessive early-onset parkinsonism. The effect of single heterozygous mutations in parkin is still unclear. The aim of this study was to evaluate the frequency of exonic parkin variants in a case-control study. METHODS The parkin gene was screened for both point mutations and exon rearrangements in 172 French patients with Parkinson disease (PD) and 170 controls from the same population. Patients with single parkin variants were also… CONTINUE READING

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