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Titolo:
Detection of the presenilin 1 gene mutation (M139T) in early-onset familial Alzheimer disease in Spain
Autore:
Queralt, R; Ezquerra, M; Castellvi, M; Lleo, A; Blesa, R; Oliva, R;
Indirizzi:
Hosp Clin, Inst Invest Biomed August Pi & Sunyer, Genet Serv, Barcelona 08036, Spain Hosp Clin Barcelona Spain 08036 nyer, Genet Serv, Barcelona 08036, Spain Hosp Clin, IDIBAPS, Neurol Serv, Barcelona 08036, Spain Hosp Clin Barcelona Spain 08036 APS, Neurol Serv, Barcelona 08036, Spain
Titolo Testata:
NEUROSCIENCE LETTERS
fascicolo: 3, volume: 299, anno: 2001,
pagine: 239 - 241
SICI:
0304-3940(20010223)299:3<239:DOTP1G>2.0.ZU;2-5
Fonte:
ISI
Lingua:
ENG
Soggetto:
MISSENSE MUTATIONS;
Keywords:
early-onset Alzheimer's disease; Alzheimer disease; presenilin 1 gene; mutation;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
16
Recensione:
Indirizzi per estratti:
Indirizzo: Oliva, R Hosp Clin, Inst Invest Biomed August Pi & Sunyer, Genet Serv, Villarroel 170, Barcelona 08036, Spain Hosp Clin Villarroel 170 Barcelona Spain 08036 lona 08036, Spain
Citazione:
R. Queralt et al., "Detection of the presenilin 1 gene mutation (M139T) in early-onset familial Alzheimer disease in Spain", NEUROSCI L, 299(3), 2001, pp. 239-241

Abstract

In a family with early-onset Alzheimer disease (EOAD) from Spain we found a mutation in the presenilin 1 (PS1) gene that predicts a methionine-to-threonine change at the PS1 residue 139 (M139T). This mutation was previously reported in a independent French family. The age of onset of the disease was similar in the affected members from both families, suggesting a specificage of expression (range 47-50 years). The detection of the M139T mutationin an independent EOAD family strongly supports the pathogenicity of this mutation in familial Alzheimer disease (AD). (C) 2001 Elsevier Science Ireland Ltd. All rights reserved.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 09/04/20 alle ore 19:58:45