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  1. 1
    Lysosomal storage disorders: Molecular basis and laboratory testing

    Lysosomal storage disorders: Molecular basis and laboratory testing by Filocamo Mirella, Morrone Amelia

    Published 2011-03-01
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  2. 2
    Molecular Genetic Analysis of the <it>PLP1 </it>Gene in 38 Families with <it>PLP1</it>-related disorders: Identification and Functional Characterization of 11 Novel <it>PLP1 </it>Mutations

    Molecular Genetic Analysis of the <it>PLP1 </it>Gene in 38 Families with <it>PLP1</it>-related disorders: Identification and Functional Characterization of 11 Novel <it>PLP1 </it>M... by Marchiani Valentina, Demir Ercan, Corsolini Fabio, Simonati Alessandro, Boespflug-Tanguy Odile, Uziel Graziella, Bertini Enrico, Lualdi Susanna, Mort Matthew, Biancheri Roberta, Regis Stefano, Grossi Serena, Percesepe Antonio, Stanzial Franco, Rossi Andrea, Vaurs-Barrière Catherine, Cooper David N, Filocamo Mirella

    Published 2011-06-01
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