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. Among authors: gobbi m.
Science. 2009 Mar 13;323(5920):1473-7. doi: 10.1126/science.1168979.
Science. 2009.
PMID: 19286555
Free PMC article.