Umeda T, Kimura T, Yoshida K, Takao K, Fujita Y, Matsuyama S, Sakai A, Yamashita M, Yamashita Y, Ohnishi K, Suzuki M, Takuma H, Miyakawa T, Takashima A, Morita T, Mori H, Tomiyama T. Mutation-induced loss of APP function causes GABAergic depletion in recessive familial Alzheimer's disease: analysis of Osaka mutation-knockin mice. Acta Neuropathol Commun. 2017 Jul 31;5(1):59. PubMed.

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Mutations

  1. APP E693del (Osaka)