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Research Article

A Novel GUSB Mutation in Brazilian Terriers with Severe Skeletal Abnormalities Defines the Disease as Mucopolysaccharidosis VII

  • Marjo K. Hytönen,

    Affiliations: Department of Veterinary Biosciences, Research Programs Unit, Molecular Medicine, University of Helsinki, Helsinki, Finland, The Folkhälsan Institute of Genetics, Helsinki, Finland, Biochemistry and Developmental Biology, Institute of Biomedicine, University of Helsinki, Helsinki, Finland

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  • Meharji Arumilli,

    Affiliations: Department of Veterinary Biosciences, Research Programs Unit, Molecular Medicine, University of Helsinki, Helsinki, Finland, The Folkhälsan Institute of Genetics, Helsinki, Finland

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  • Anu K. Lappalainen,

    Affiliation: Equine and Small Animal Medicine, Faculty of Veterinary Medicine, University of Helsinki, Helsinki, Finland

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  • Heli Kallio,

    Affiliation: Department of Veterinary Biosciences, Research Programs Unit, Molecular Medicine, University of Helsinki, Helsinki, Finland

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  • Marjatta Snellman,

    Affiliation: Equine and Small Animal Medicine, Faculty of Veterinary Medicine, University of Helsinki, Helsinki, Finland

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  • Kirsi Sainio,

    Affiliation: Biochemistry and Developmental Biology, Institute of Biomedicine, University of Helsinki, Helsinki, Finland

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  • Hannes Lohi mail

    hannes.lohi@helsinki.fi

    Affiliations: Department of Veterinary Biosciences, Research Programs Unit, Molecular Medicine, University of Helsinki, Helsinki, Finland, The Folkhälsan Institute of Genetics, Helsinki, Finland

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  • Published: July 05, 2012
  • DOI: 10.1371/journal.pone.0040281

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