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Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease.
Sassi, Celeste; Guerreiro, Rita; Gibbs, Raphael; Ding, Jinhui; Lupton, Michelle K; Troakes, Claire; Lunnon, Katie; Al-Sarraj, Safa; Brown, Kristelle S; Medway, Chirstopher; Lord, Jenny; Turton, James; Mann, David; Snowden, Julie; Neary, David; Harris, Jeniffer; Bras, Jose; Morgan, Kevin; Powell, John F; Singleton, Andrew; Hardy, John.
Afiliação
  • Sassi C; University College London (UCL) Institute of Neurology, London, UK; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA. Electronic address: celeste.sassi.10@ucl.ac.uk.
  • Guerreiro R; University College London (UCL) Institute of Neurology, London, UK; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
  • Gibbs R; University College London (UCL) Institute of Neurology, London, UK; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
  • Ding J; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
  • Lupton MK; Institute of Psychiatry, King's College London, London, UK.
  • Troakes C; Institute of Psychiatry, King's College London, London, UK.
  • Lunnon K; Institute of Psychiatry, King's College London, London, UK.
  • Al-Sarraj S; Institute of Psychiatry, King's College London, London, UK.
  • Brown KS; School of Molecular Medical Sciences, Institute of Genetics, Queen's Medical Centre, University of Nottingham, Nottingham, UK.
  • Medway C; School of Molecular Medical Sciences, Institute of Genetics, Queen's Medical Centre, University of Nottingham, Nottingham, UK.
  • Lord J; School of Molecular Medical Sciences, Institute of Genetics, Queen's Medical Centre, University of Nottingham, Nottingham, UK.
  • Turton J; School of Molecular Medical Sciences, Institute of Genetics, Queen's Medical Centre, University of Nottingham, Nottingham, UK.
  • Mann D; Institute of Brain, Behaviour, and Mental Health, The University of Manchester, Manchester, UK.
  • Snowden J; Cerebral Function Unit Greater Manchester Neuroscience Centre, Manchester, UK.
  • Neary D; Cerebral Function Unit Greater Manchester Neuroscience Centre, Manchester, UK.
  • Harris J; Cerebral Function Unit Greater Manchester Neuroscience Centre, Manchester, UK.
  • Bras J; University College London (UCL) Institute of Neurology, London, UK.
  • Morgan K; School of Molecular Medical Sciences, Institute of Genetics, Queen's Medical Centre, University of Nottingham, Nottingham, UK.
  • Powell JF; Institute of Psychiatry, King's College London, London, UK.
  • Singleton A; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
  • Hardy J; University College London (UCL) Institute of Neurology, London, UK.
Neurobiol Aging ; 35(10): 2422.e13-6, 2014 Oct.
Article em En | MEDLINE | ID: mdl-24880964
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Presenilina-1 / Estudos de Associação Genética / Doença de Alzheimer / Exoma / Mutação Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged País/Região como assunto: Europa Idioma: En Revista: Neurobiol Aging Ano de publicação: 2014 Tipo de documento: Article País de publicação: Estados Unidos
Texto completo
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XML
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Presenilina-1 / Estudos de Associação Genética / Doença de Alzheimer / Exoma / Mutação Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged País/Região como assunto: Europa Idioma: En Revista: Neurobiol Aging Ano de publicação: 2014 Tipo de documento: Article País de publicação: Estados Unidos