. Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements. Proc Natl Acad Sci U S A. 1999 May 11;96(10):5598-603. PubMed.

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Mutations

  1. MAPT L284L
  2. MAPT IVS10+29 G>A
  3. MAPT K280del