Grover A, Houlden H, Baker M, Adamson J, Lewis J, Prihar G, Pickering-Brown S, Duff K, Hutton M. 5' splice site mutations in tau associated with the inherited dementia FTDP-17 affect a stem-loop structure that regulates alternative splicing of exon 10. J Biol Chem. 1999 May 21;274(21):15134-43. PubMed.

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Mutations

  1. MAPT IVS10+3 G>A
  2. MAPT IVS10+13 A>G
  3. MAPT IVS10+14 C>T
  4. MAPT IVS10+16 C>T