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Low prevalence of A...
Low prevalence of APP duplications in Swedish and Finnish patients with early onset Alzheimer's disease
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- Blom, Elin Susanne (författare)
- Uppsala universitet,Geriatrik
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Viswanathan, Jayashree (författare)
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- Kilander, Lena (författare)
- Uppsala universitet,Geriatrik
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Helisalmi, Seppo (författare)
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Soininen, Hilkka (författare)
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- Lannfelt, Lars (författare)
- Uppsala universitet,Geriatrik
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- Ingelsson, Martin (författare)
- Uppsala universitet,Geriatrik
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- Glaser, Anna (författare)
- Uppsala universitet,Geriatrik
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Hiltunen, Mikko (författare)
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(creator_code:org_t)
- 2007-11-28
- 2008
- Engelska.
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Ingår i: European Journal of Human Genetics. - : Springer Science and Business Media LLC. - 1018-4813 .- 1476-5438. ; 16:2, s. 171-5
- Relaterad länk:
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https://www.nature.c...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- Familial early-onset Alzheimer's disease with cerebral amyloid angiopathy (EOAD/CAA) was recently associated with duplications of the gene for the amyloid-beta precursor protein (APP). In this study, we have screened for duplications of APP in patients with EOAD from Sweden and Finland. Seventy-five individuals from families with EOAD and 66 individuals with EOAD without known familial inheritance were screened by quantitative PCR. On the basis of the initial results, a portion of the samples was also investigated with quantitative multiplex PCR. No duplications of APP were identified, whereby we conclude that this is not a common cause of EOAD in the Swedish and Finnish populations, at least not in our collection of families and cases.
Nyckelord
- early-onset Alzheimer's disease
- amyloid beta precursor protein
- gene dose
- APP
- duplication
- MEDICINE
- MEDICIN
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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