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Publications
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Ezquerra M, Carnero C, Blesa R, Oliva R. A novel presenilin 1 mutation (Leu166Arg) associated with early-onset Alzheimer disease. Archives of Neurology 57: 485-488, 2000 (PubMed ID: 10768621) |
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PSEN1:
(Leu166Arg)
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ID: 84 | |
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Lleo A, Blesa R, Queralt R, Ezquerra M, Molinuevo JL, Pena-Casanova J, Rojo A, Oliva R. Frequency of mutations in the presenilin and amyloid precursor protein genes in early-onset Alzheimer disease in Spain. Archives of Neurology 59: 1759-1763, 2002 (PubMed ID: 12433263) |
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PSEN1:
(Val89Leu)
(Met139Thr)
(His163Arg)
(Leu166Arg)
(Ser169Pro)
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ID: 152 | |
Mutation color legend:
Red: mutation is pathogenic
Orange: pathogenic nature is unclear
Green: mutation is not pathogenic
Selection:
Publication ID In (84,152)
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