title: Screening of amyloid precursor protein gene mutation (APP 717 Val-->Ile) in Swedish families with Alzheimer's disease.
abstract: Screening for the APP 717 Val-->Ile mutation in the amyloid precursor protein (APP) gene in 34 Swedish families with familial Alzheimer's disease (FAD), 16 sporadic cases of Alzheimer's disease and five patients with Down's syndrome (DS) failed to identify further cases of the mutation. These results suggests that the mutation is rare among Swedish families with Alzheimer's disease. In addition, we summarize present reports of the frequency of the mutation.
authors.affiliation: Alzheimer's Disease Research Centre, Karolinska Institute, Huddinge, Sweden.
authors.forename: E
authors.initials: E
authors.lastname: Almqvist
authors.forename: S
authors.initials: S
authors.lastname: Lake
authors.forename: K
authors.initials: K
authors.lastname: Axelman
authors.forename: K
authors.initials: K
authors.lastname: Johansson
authors.forename: B
authors.initials: B
authors.lastname: Winblad
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000235:genetics*; D016564:Amyloid beta-Protein Precursor / Q000235:genetics*; D002891:Chromosomes, Human, Pair 21; D004314:Down Syndrome / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D007532:Isoleucine / Q000378:metabolism; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction; D013548:Sweden; D014633:Valine / Q000235:genetics
chemical_list: D016564:Amyloid beta-Protein Precursor; D007532:Isoleucine; D014633:Valine