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Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea
Authors:Maria do Carmo Costa  Cristina Costa  Ana Paula Silva  Pedro Evangelista  Luís Santos  Anabela Ferro  Jorge Sequeiros  Patrícia Maciel
Affiliation:(1) Life and Health Sciences Research Institute, School of Health Sciences, University of Minho, Campus de Gualtar, Braga, 4710-057, Portugal;(2) Neurology Department, Hospital Fernando Fonseca, Amadora, Portugal;(3) Rehabilitation Department, Hospital Fernando Fonseca, Amadora, Portugal;(4) Neuroimaging Department, Hospital Fernando Fonseca, Amadora, Portugal;(5) Neurology Department, Hospital Egas Moniz, Lisbon, Portugal;(6) UnIGENe, IBMC, University of Porto, Porto, Portugal;(7) Department of Population Genetics, ICBAS, University of Porto, Porto, Portugal
Abstract:
Keywords:Choreoathetosis  Nkx2.1  Thyroid dysfunction  Huntington disease  Pulmonary alterations
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