Article
De novo presenilin 1 mutations are rare in clinically sporadic, early onset Alzheimer's disease cases. French Alzheimer's Disease Study Group.
Journal of medical genetics - 1 Aug 1998
Dumanchin C, Brice A, Campion D, Hannequin D, Martin C, Moreau V, Agid Y, Martinez M, Clerget-Darpoux F, Frebourg T
Abstract excerpt
The presenilin 1 (PS1) gene, located on chromosome 14, is the major gene involved in the autosomal dominant forms of early onset Alzheimer's disease (AD). In order to estimate the frequency of de novo PS1 mutations, we have sequenced the PS1 open reading frame in 13 clinically diagnosed patients...
Topics
- Adult
- Age of Onset
- Aged
- Aged, 80 and over
- Alzheimer Disease
- Female
- Humans
- Male
- Membrane Proteins
- Middle Aged
- Mutation
- Pedigree
- Presenilin-1