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A recessive mutation in the APP gene with dominant-negative effect on amyloidogenesis.
Di Fede G, Catania M, Morbin M, Rossi G, Suardi S, Mazzoleni G, Merlin M, Giovagnoli AR, Prioni S, Erbetta A, Falcone C, Gobbi M, Colombo L, Bastone A, Beeg M, Manzoni C, Francescucci B, Spagnoli A, Cantù L, Del Favero E, Levy E, Salmona M, Tagliavini F. Di Fede G, et al. Science. 2009 Mar 13;323(5920):1473-7. doi: 10.1126/science.1168979. Science. 2009. PMID: 19286555 Free PMC article.