Bruni AC, Bernardi L, Colao R, Rubino E, Smirne N, Frangipane F, Terni B, Curcio SA, Mirabelli M, Clodomiro A, Di Lorenzo R, Maletta R, Anfossi M, Gallo M, Geracitano S, Tomaino C, Muraca MG, Leotta A, Lio SG, Pinessi L, Rainero I, Sorbi S, Nee L, Milan G, Pappatà S, Postiglione A, Abbamondi N, Forloni G, St George Hyslop P, Rogaeva E, Bugiani O, Giaccone G, Foncin JF, Spillantini MG, Puccio G. Worldwide distribution of PSEN1 Met146Leu mutation: a large variability for a founder mutation. Neurology. 2010 Mar 9;74(10):798-806. Epub 2010 Feb 17 PubMed.

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Mutations

  1. PSEN1 M146L (A>C)