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Second mutation in PARK2 is absent in patients with sporadic Parkinson's disease and heterozygous exonic deletions/duplications in parkin gene.

Marina V ShulskayaMaria I ShadrinaEkaterina Yu FedotovaNataliya Yu AbramychevaSvetlana A LimborskaSergey N IllarioshkinPetr A Slominsky
Published in: The International journal of neuroscience (2016)
Thus, our data indicate that heterozygous deletions and duplications can play an important role in the pathogenesis of PD and can be considered as dominant mutations with low penetrance.
Keyphrases
  • early onset
  • late onset
  • electronic health record
  • copy number
  • genome wide
  • genome wide identification
  • amyotrophic lateral sclerosis
  • gene expression
  • data analysis