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  1. 1
    Preferential expression of mutant <it>ABCD1 </it>allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms

    Preferential expression of mutant <it>ABCD1 </it>allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms by Salsano Ettore, Tabano Silvia, Sirchia Silvia M, Colapietro Patrizia, Castellotti Barbara, Gellera Cinzia, Rimoldi Marco, Pensato Viviana, Mariotti Caterina, Pareyson Davide, Miozzo Monica, Uziel Graziella

    Published 2012-01-01
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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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