Early-onset Alzheimer's disease caused by a novel mutation at codon 219 of the presenilin-1 gene
- Author
- SMITH, M. J1 2 3 ; GARDNER, R. J. M4 ; KNIGHT, M. A4 ; FORREST, S. M4 ; BEYREUTHER, K5 ; STOREY, E6 ; MCLEAN, C. A1 ; COTTON, R. G. H3 ; CAPPAL, R1 2 ; MASTERS, C. L1 2
[1] Department of Pathology, The University of Melbourne, Parkville, Vic 3052, Australia
[2] The Mental Health Research Institute of Victoria, Parkville, Vic 3052, Australia
[3] Mutation Research Centre, St. Vincent's Hospital, Fitzroy, Vic 3065, Australia
[4] The Murdoch Institute, Royal, Children's Hospital, Parkville, Melbourne, Vic 3052, Australia
[5] Centre of Molecular Biology, University of Heidelberg, Im Neuenheimer Feld 282, 69120 Heidelberg, Germany
[6] Van Cleef/Roet Centre for Neuroscience, Monash University, and Neurogenetics Clinic, Royal Melbourne Hospital, Vic 3050, Australia - Source
Neuroreport (Oxford). 1999, Vol 10, Num 3, pp 503-507 ; ref : 25 ref
- ISSN
- 0959-4965
- Scientific domain
- Neurology; Physiology, morphology
- Publisher
- Lippincott Williams and Wilkins, Hagerstown, MD
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Démence Alzheimer Etude familiale Expression génique Homme Mutation Préséniline Séquence nucléotide Encéphale pathologie Maladie dégénérative Système nerveux central pathologie Système nerveux pathologie
- Keyword (en)
- Alzheimer disease Family study Gene expression Human Mutation Presenilin Nucleotide sequence Cerebral disorder Degenerative disease Central nervous system disease Nervous system diseases
- Keyword (es)
- Demencia Alzheimer Estudio familiar Expresión genética Hombre Mutación Presenilina Secuencia nucleótido Encéfalo patología Enfermedad degenerativa Sistema nervosio central patología Sistema nervioso patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17G Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
- Discipline
- Neurology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 1791561
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1097/00001756-199902250-00011 
https://dx.doi.org/10.1097/00001756-199902250-00011
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