Works matching Neutral mutations


Results: 769
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    The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene.

    Published in:
    Journal of Neurology, 2011, v. 258, n. 11, p. 1987, doi. 10.1007/s00415-011-6055-4
    By:
    • Reilich, Peter;
    • Horvath, Rita;
    • Krause, Sabine;
    • Schramm, Nicolai;
    • Turnbull, Doug;
    • Trenell, Michael;
    • Hollingsworth, Kieren;
    • Gorman, Grainne;
    • Hans, Volkmar;
    • Reimann, Jens;
    • MacMillan, Andrée;
    • Turner, Lesley;
    • Schollen, Annette;
    • Witte, Gregor;
    • Czermin, Birgit;
    • Holinski-Feder, Elke;
    • Walter, Maggie;
    • Schoser, Benedikt;
    • Lochmüller, Hanns
    Publication type:
    Article
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