M. Mullan, F. Crawford, K. Axelman, H. Houlden, L. Lilius, B. Winblad, L. Lannfelt, "A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of b- amyloid," Nature Genetics, 1:345-7, 1992.
Mike Mullan (Molecular Genetics Laboratory, Department of Psychiatry, University of South Florida, Tampa): "The discovery of a handful of mutations in the b-amyloid precursor protein (bAPP) gene leading to familial early- onset Alzheimer's disease (AD) was a significant advance in the study of AD. Collectively these proteins suggested that the parent bAPP molecule, or one of its products, is directly implicated in the Alzheimer process, and that a further look at these variants might provide a model for the disease.
"The bAPP 670/671 mutation was discovered by genetic linkage analysis of two related Swedish pedigrees with disease onset in the mid-1950s. We examined the co-segregation of the bAPP gene with AD in these families....
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