The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families

Robert Clark ,Lena Lilius ,Jorge Ossa ,Richard J Harvey ,Karin Axelman ,Michelle Wragg ,Susanne Froelich ,Martin N Rossor ,Bengt Winblad ,Mark D Adams ,David Mann ,Jordi Pérez‐Tur ,Sarah Lincoln ,S Sarner ,Rebecca A Fuldner ,Chuan He ,Lars Lannfelt ,Guy Prihar ,Joanne Norton ,Christopher Pearson ,Todd Ashworth ,Julie S Snowden ,Matt Baker ,Lucía Madrigal ,Karen Duff ,John Hardy ,Nitin D Mehta ,Cindy Zehr ,Minna Pöyhönen ,Pl Lantos ,Kevin Korenblat ,Eric Karran ,Frances Busfield ,Alonso Martínez ,Richard F Cowburn ,Robert J Cline ,Dennis W Dickson ,John C Morris ,Christopher M Humphreys ,Angus Kennedy ,George T Roberts ,Janet Johnston ,Francisco Lopera ,P Roques ,Chris J Talbot ,David Neary ,Michael Hutton ,Matti Haltia ,Nick C Fox ,H Houlden ,J Craig Venter ,Matti Viitanen ,Richard Crook ,Carissa Phillips ,Mauricio Arcos ,María Isabel Behrens ,Lotta Forsell ,Ks Kosik ,John Collinge ,Corinne Lendon ,Amanda Myers ,A Navarro Ruíz ,Alison M Goate

doi:10.1038/ng1095-219

The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families

Robert Clark , Lena Lilius + Show 61 more

https://doi.org/10.1038/ng1095-219

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Journal: Nature Genetics	Publication Date: Oct 1, 1995
Citations: 492

Affiliation: Washington University in St. Louis, Collaborative Group (United States), Karolinska Institutet, University of Antioquia, Imperial College London, National Hospital for Neurology and Neurosurgery, University College London, University of Manchester, University of South Florida, University of Oulu, Psychiatry Research Trust, Molecular Discovery (United Kingdom), Albert Einstein College of Medicine, University of Helsinki, Brigham and Women's Hospital

#Early Onset Familial Alzheimer's Disease #Onset Familial Alzheimer's Disease + Show 8 more

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Abstract

Genetic linkage studies place a gene causing early onset familial Alzheimer's disease (FAD) on chromosome 14q24.3 (refs 1-4). Five mutations within the S182 (Presenilin 1: PS-1) gene, which maps to this region, have recently been reported in several early onset FAD kindreds. We have localized the PS-1 gene to a 75 kb region and present the structure of this gene, evidence for alternative splicing and describe six novel mutations in early onset FAD pedigrees all of which alter residues conserved in the STM2 (Presenilin 2: PS-2) gene.

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