Träfflista för sökning "WFRF:(Winblad B) srt2:(1990-1994);srt2:(1993)"

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1.	Almqvist, E, et al. (author) Screening of amyloid precursor protein gene mutation (APP 717 Val-->Ile) in Swedish families with Alzheimer's disease. 1993 In: Journal of neural transmission. Parkinson's disease and dementia section. - 0936-3076. ; 6:2, s. 151-6 Journal article (peer-reviewed)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.
2.	Lannfelt, L, et al. (author) Low frequency of the APP 670/671 mutation in familial Alzheimer's disease in Sweden. 1993 In: Neuroscience Letters. - 0304-3940 .- 1872-7972. ; 153:1, s. 85-7 Journal article (peer-reviewed)abstract Molecular genetic studies have identified disease-causing mutations at codon 717 of the amyloid protein precursor gene in families with early-onset Alzheimer's disease. Recently, we reported a new mutation at codon 670/671 in a large Swedish family with Alzheimer's disease. The mutation results in two amino acid changes at the N-terminal of the beta-amyloid region. In the present study, we screened for the APP 670/671 mutation in sufferers from 31 other Swedish families with Alzheimer's disease using PCR and restriction enzyme digestion. The mutation was found only in the family previously reported and not in any other family. It is concluded that this mutation is a rare cause of familial Alzheimer's disease in Sweden.

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Type of publication: journal article (2)

Type of content: peer-reviewed (2)

Author/Editor: Winblad, B (2); Johansson, K (2); Almqvist, E (2); Axelman, K (2); Viitanen, M (1); Lake, S (1); show more...; Lannfelt, L (1); Lilius, L (1); show less...

University: Marie Cederschiöld högskola (2)

Language: English (2)

Research subject (UKÄ/SCB): Medical and Health Sciences (2)

Year: 1993 (2)Undo refine

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