- Tytuł:
- A novel pathogenic PSEN1 mutation in a family with Alzheimer's disease: phenotypical and neuropathological features.
- Autorzy:
- Źródło:
- Journal of Alzheimer's disease : JAD [J Alzheimers Dis] 2011; Vol. 25 (3), pp. 425-31.
- Typ publikacji:
- Journal Article
- MeSH Terms:
-
Family Health*
Alzheimer Disease/*genetics
Alzheimer Disease/*pathologyGenetic Predisposition to Disease /*genetics
Mutation/*genetics
Presenilin-1/*genetics
Aged ; Alzheimer Disease/metabolism ; Amyloid beta-Peptides/metabolism ; Brain/metabolism ; Brain/pathology ; DNA Mutational Analysis/methods ; Female ; Humans ; Isoleucine/genetics ; Male ; Mental Status Schedule ; Middle Aged ; Phenotype ; Valine/genetics
Czasopismo naukowe