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

Autor: Harry Houlden, Janet A. Johnston, Mike Hutton, Bengt Winblad, Jordi Pérez-Tur, Alonso Martínez, N Mehta, Ken Kosik, Karin Axelman, Lena Lilius, M. Arcos, C Humphreys, C Zehr, Alison Goate, Mark Raymond Adams, Julie S. Snowden, Corinne Lendon, Chad G. Pearson, Cline Rt, Venter Jc, Lotta Forsell, David G. Mann, Matti Viitanen, S Sarner, R Harvey, Lars Lannfelt, John Collinge, Lucia Madrigal, T Ashworth, Maria I. Behrens, Karen Duff, Robert Clark, John Hardy, George Roberts, Nick C. Fox, Dennis W. Dickson, Kevin M. Korenblat, John C. Morris, Sue Froelich, Amanda J. Myers, Martin N. Rossor, Richard Crook, Minna Pöyhönen, Francisco Lopera, Christopher Talbot, Phillips Ca, Michelle Wragg, M Baker, P Roques, C He, Jorge Ossa, Adriana Ruiz, D Neary, F. Busfield, Joanne Norton, Rebecca A. Fuldner, Eric Karran, A Kennedy, Matti Haltia, Guy Prihar, R Cowburn, Peter L. Lantos, Sarah Lincoln

Publikováno v: Nature genetics. 11(2)

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 seve

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https://pubmed.ncbi.nlm.nih.gov/7550356