Two novel (M233T and R278T) presenilin-1 mutations in early-onset Alzheimer's disease pedigrees and preliminary evidence for association of presenilin-1 mutations with a novel phenotype.

Kwok, J B; Taddei, K; Hallupp, M; Fisher, C; Brooks, W S; Broe, G A; Hardy, J; Fulham, M J; Nicholson, G A; Stell, R; St George Hyslop, P H; Fraser, P E; Kakulas, B; Clarnette, R; Relkin, N; Gandy, S E; Schofield, P R; Martins, R N

Kwok, J B; Taddei, K; Hallupp, M; Fisher, C; Brooks, W S; Broe, G A; Hardy, J; Fulham, M J; Nicholson, G A; Stell, R; St George Hyslop, P H; Fraser, P E; Kakulas, B; Clarnette, R; Relkin, N; Gandy, S E; Schofield, P R; Martins, R N.

Affiliation

Kwok JB; Garvan Institute of Medical Research, Sydney, NSW, Australia.

Neuroreport ; 8(6): 1537-42, 1997 Apr 14.

Article in En | MEDLINE | ID: mdl-9172170

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Collection: 01-internacional Database: MEDLINE Main subject: Genetic Testing / Point Mutation / Alzheimer Disease / Membrane Proteins Type of study: Risk_factors_studies Limits: Adult / Female / Humans / Male / Middle aged Language: En Journal: Neuroreport Journal subject: NEUROLOGIA Year: 1997 Document type: Article Affiliation country: Australia Country of publication: Reino Unido

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