Miyamoto K, Kowalska A, Hasegawa M, Tabira T, Takahashi K, Araki W, Akiguchi I, Ikemoto A. Familial frontotemporal dementia and parkinsonism with a novel mutation at an intron 10+11-splice site in the tau gene. Ann Neurol. 2001 Jul;50(1):117-20. PubMed.

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Mutations

  1. MAPT IVS10+11 T>C
  2. MAPT P301P