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

Authors: Robert Clark, M. Hutton, M. Fuldner, Susanne Froelich, Eric Karran, Chris J. Talbot, Richard Crook, C Lendon, Guy Prihar, C. He, Kevin Korenblat, Alonso Martínez, Michelle Wragg, Frances Busfield, María Isabel Behrens, A. Myers, Joanne Norton, John C. Morris, Nitin D. Mehta, Christopher E. Pearson, S. Lincoln, Matt Baker, Karen Duff, Cindy Zehr, Jordi Pérez‐Tur, Henry Houlden, A. Ruiz, J. Ossa, Francisco Lopera, Mauricio Arcos‐Burgos, Lorena Madrigal, John Collinge, Christopher M. Humphreys, Alan Ashworth, S. Sarner, Nick C. Fox, Richard Harvey, Angus Kennedy, P Roques, Robin T. Cline, C.A. Philips, J. Craig Venter, Lotta Forsell, Karin Axelman, Lena Lilius, Janet Johnston, Richard F. Cowburn, Matti Viitanen, Bengt Winblad, K S Kosik, Matti Haltia, Minna Pöyhönen, Dennis W. Dickson, David Mann, David Neary, Julie S. Snowden, P. L. Lantos, Lars Lannfelt, Martin N. Rossor, Gareth Roberts, Mark D. Adams, John Hardy, Alison Goate - Nature Genetics 1995 cited by 476