Kufs Disease, the Major Adult Form of Neuronal Ceroid Lipofuscinosis, Caused by Mutations in CLN6

The molecular basis of Kufs disease is unknown, whereas a series of genes accounting for most of the childhood-onset forms of neuronal ceroid lipofuscinosis (NCL) have been identified. Diagnosis of Kufs disease is difficult because the characteristic lipopigment is largely confined to neurons and ca...

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Autors principals: Arsov, Todor, Smith, Katherine R., Damiano, John, Franceschetti, Silvana, Canafoglia, Laura, Bromhead, Catherine J., Andermann, Eva, Vears, Danya F., Cossette, Patrick, Rajagopalan, Sulekha, McDougall, Alan, Sofia, Vito, Farrell, Michael, Aguglia, Umberto, Zini, Andrea, Meletti, Stefano, Morbin, Michela, Mullen, Saul, Andermann, Frederick, Mole, Sara E., Bahlo, Melanie, Berkovic, Samuel F.
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2011
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3146726/
https://ncbi.nlm.nih.gov/pubmed/21549341
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.04.004
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