Article
Mutations of the presenilin I gene in families with early-onset Alzheimer's disease.
Human molecular genetics - 1 Dec 1995
Campion D, Flaman J M, Brice A, Hannequin D, Dubois B, Martin C, Moreau V, Charbonnier F, Didierjean O, Tardieu S
Abstract excerpt
We analyzed 12 families with autosomal dominant early-onset Alzheimer' s disease (EOAD)for mutations in the coding region of the presenilin I (PSNLI) gene corresponding to the AD3 locus on chromosome 14q24.3. A total of eight missense mutations at codons 82, 115, 139, 163, 231, 264, 392, and 410...
Topics
- Age of Onset
- Alzheimer Disease
- Amino Acid Sequence
- Base Sequence
- Cell Line, Transformed
- DNA
- DNA Mutational Analysis
- Female
- Humans
- Male
- Membrane Proteins
- Molecular Sequence Data