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A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy with dementia and supranuclear palsy
Authors:Marie-Bernadette Delisle  Jill R. Murrell  Rosemarie Richardson  James A. Trofatter  Olivier Rascol  Xavier Soulages  Michel Mohr  Patrick Calvas  B. Ghetti
Affiliation:(1) Neuropathology Laboratory, INSERM U466, University Hospital, University Paul Sabatier, Toulouse, France, FR;(2) Department of Pathology and Laboratory Medicine, Division of Neuropathology, Indiana University School of Medicine, 635 Barnhill Drive, Indianapolis, IN, 46202 USA e-mail: bghetti@iupui.eduƒTel.: +1-317-274-7818, Fax + 1-317-274-4882, IN;(3) Department of Psychiatry, Indiana University School of Medicine, Indianapolis, Indiana, USA, IN;(4) Department of Pharmacology and Neurology, Clinical Investigation Center, University Hospital, Toulouse, France, FR;(5) Department of Medicine, General Hospital, Rodez, France, FR;(6) Institute of Pathology, Faculty of Medicine, Strasbourg, France, FR;(7) Laboratory of Molecular Immunogenetic, University Hospital, Toulouse, France, FR
Abstract:
Keywords:Frontotemporal dementia  Genetics  Progressive supranuclear palsy  Tauopathy  Exon  amplifcation
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