Walker ES, Martinez M, Brunkan AL, Goate A.
Presenilin 2 familial Alzheimer's disease mutations result in partial loss of function and dramatic changes in Abeta 42/40 ratios.
J Neurochem. 2005 Jan;92(2):294-301.
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These data are also very consistent with the suggestion that changes in Abeta production, or changes in the ratio of its various forms, are not the main causative agent of FAD.