Genetics

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 famili

The Scientist Staff
Aug 21, 1994

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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