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Article

F175S change and a novel polymorphism in presenilin-1 gene in late-onset familial Alzheimer's disease.

European neurology - 1 Jan 2002

Colacicco A M, Panza F, Basile A M, Solfrizzi V, Capurso C, D'Introno A, Torres F, Capurso S, Cozza S, Flora R, Capurso A

Abstract excerpt

We analyzed at the molecular level with presenilin-1 (PS-1) and apolipoprotein E (apoE) genotyping the affected subjects and asymptomatic relatives of an Italian family with several members affected by late-onset familial Alzheimer's disease (AD). The screen for PS-1 gene mutations revealed a novel missense substitution phenylalanine 175 to serine in 1 of the affected individuals and 2 asymptomatic sons of the...

Topics

Aged
Alleles
Alzheimer Disease
Apolipoproteins E
Female
Humans
Male
Membrane Proteins
Middle Aged
Mutation, Missense
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phenylalanine

Polymerase Chain Reaction

Presenilin-1

Serine

Source

Identifiers

PMID: 12037434
DOI: 10.1159/000057901

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