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  • Hereditary systemic amyloid...
    Pepys, Mark; Touchard, Guy; Stoppini, Monica; Dalphech, Marc; Goujon, Jean-Michel; Gillmore, Julian D; Nedelec, Brigitte; Adams, David; Maisonobe, Thierry; Plante-Bordeneuve, Violaine; Giorgetti, Sofia; Dogan, Ahmet; Bridoux, Frank; Mangione, Palma P; Vrana, Julie A; Lacombe, Corinne; Theis, Jason D; Boimard, Mathieu; Bellotti, Vittorio; Ricagno, Stefano; Porcari, Riccardo; Hawkins, Philip N; Lacroix, Catherine; Lozeron, Pierre; Bolognesi, Martino; Valleix, Sophie

    The New England journal of medicine, 06/2012, Letnik: 366, Številka: 24
    Journal Article

    The article discusses hereditary systemic amyloidosis due to Asp76Asn variant beta 2-microglobulin. The Asp76Asn variant B2-microglobulin variant was found to be thermodynamically unstable and remarkably fibrillogenic in vitro under physiological conditions.