A decamer duplication in the 3′ region of the BRI gene originates an amyloid peptide that is associated with dementia in a Danish kindred

Familial Danish dementia (FDD), also known as heredopathia ophthalmo-oto-encephalica, is an autosomal dominant disorder characterized by cataracts, deafness, progressive ataxia, and dementia. Neuropathological findings include severe widespread cerebral amyloid angiopathy, hippocampal plaques, and n...

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Hlavní autoři: Vidal, Ruben, Révész, Tamas, Rostagno, Agueda, Kim, Eugene, Holton, Janice L., Bek, Toke, Bojsen-Møller, Marie, Braendgaard, Hans, Plant, Gordon, Ghiso, Jorge, Frangione, Blas
Médium: Artigo
Jazyk:Inglês
Vydáno: The National Academy of Sciences 2000
Témata:
Biological Sciences
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC18333/
https://ncbi.nlm.nih.gov/pubmed/10781099
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