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Understanding the role of genetic variability in LRRK2 in Indian population.

Asha KishoreAshwin Ashok Kumar SreelathaMarc SturmFelix von-ZweydorfLasse PihlstrømFrancesco RaimondiRob RussellPeter LichtnerMoinak BanerjeeSyam KrishnanRoopa RajanDivya Kalikavil PuthenveeduSun Ju Chungnull nullnull nullPeter BauerOlaf RiessChristian Johannes GloecknerRejko KrugerThomas GasserManu Sharma
Published in: Movement disorders : official journal of the Movement Disorder Society (2018)
Our study, for the first time, identified novel missense variants for LRRK2, specific for the Indian population, and showed that a novel missense variant in the kinase domain modifies kinase activity in vitro. © 2018 International Parkinson and Movement Disorder Society.
Keyphrases
  • intellectual disability
  • copy number
  • protein kinase
  • tyrosine kinase
  • genome wide
  • dna methylation
  • autism spectrum disorder
  • gene expression