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Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased Abeta42 secretion.
De Jonghe C, Cruts M, Rogaeva EA, Tysoe C, Singleton A, Vanderstichele H, Meschino W, Dermaut B, Vanderhoeven I, Backhovens H, Vanmechelen E, Morris CM, Hardy J, Rubinsztein DC, St George-Hyslop PH, Van Broeckhoven C. De Jonghe C, et al. Among authors: hardy j. Hum Mol Genet. 1999 Aug;8(8):1529-40. doi: 10.1093/hmg/8.8.1529. Hum Mol Genet. 1999. PMID: 10401002
The role of presenilin 1 in the genetics of Alzheimer's disease.
Clark RF, Hutton M, Talbot C, Wragg M, Lendon C, Busfield F, Han SW, Perez-Tur J, Adams M, Fuldner R, Roberts G, Karran E, Hardy J, Goate A. Clark RF, et al. Among authors: hardy j. Cold Spring Harb Symp Quant Biol. 1996;61:551-8. Cold Spring Harb Symp Quant Biol. 1996. PMID: 9246481
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