Cras P, van Harskamp F, Hendriks L, Ceuterick C, van Duijn CM, Stefanko SZ, Hofman A, Kros JM, Van Broeckhoven C, Martin JJ.
Presenile Alzheimer dementia characterized by amyloid angiopathy and large amyloid core type senile plaques in the APP 692Ala-->Gly mutation.Acta Neuropathol.
There are at least three mutation sites in the APP sequence. They influence processing of APP to produce beta-amyloid protein in a different fashion. This is undoubtedly one of the papers that will contribute to our understanding of the biological effects of such mutations.