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Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis.
Nosková, Lenka; Stránecký, Viktor; Hartmannová, Hana; Pristoupilová, Anna; Baresová, Veronika; Ivánek, Robert; Hulková, Helena; Jahnová, Helena; van der Zee, Julie; Staropoli, John F; Sims, Katherine B; Tyynelä, Jaana; Van Broeckhoven, Christine; Nijssen, Peter C G; Mole, Sara E; Elleder, Milan; Kmoch, Stanislav.
Affiliation
  • Nosková L; Institute for Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.
Am J Hum Genet ; 89(2): 241-52, 2011 Aug 12.
Article in En | MEDLINE | ID: mdl-21820099
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Full text: 1 Database: MEDLINE Main subject: HSP40 Heat-Shock Proteins / Genes, Dominant / Membrane Proteins / Mutation / Neuronal Ceroid-Lipofuscinoses Type of study: Prognostic_studies Limits: Adult / Female / Humans / Male Language: En Journal: Am J Hum Genet Year: 2011 Type: Article Affiliation country: Czech Republic
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Full text: 1 Database: MEDLINE Main subject: HSP40 Heat-Shock Proteins / Genes, Dominant / Membrane Proteins / Mutation / Neuronal Ceroid-Lipofuscinoses Type of study: Prognostic_studies Limits: Adult / Female / Humans / Male Language: En Journal: Am J Hum Genet Year: 2011 Type: Article Affiliation country: Czech Republic