Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis

Kufs disease, an adult-onset neuronal ceroid lipofuscinosis, is challenging to diagnose and genetically heterogeneous. Mutations in CLN6 were recently identified in recessive Kufs disease presenting as progressive myoclonus epilepsy (Type A), whereas the molecular basis of cases presenting with deme...

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Autors principals: Smith, Katherine R., Dahl, Hans-Henrik M., Canafoglia, Laura, Andermann, Eva, Damiano, John, Morbin, Michela, Bruni, Amalia C., Giaccone, Giorgio, Cossette, Patrick, Saftig, Paul, Grötzinger, Joachim, Schwake, Michael, Andermann, Frederick, Staropoli, John F., Sims, Katherine B., Mole, Sara E., Franceschetti, Silvana, Alexander, Noreen A., Cooper, Jonathan D., Chapman, Harold A., Carpenter, Stirling, Berkovic, Samuel F., Bahlo, Melanie
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2013
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Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3596852/
https://ncbi.nlm.nih.gov/pubmed/23297359
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/dds558
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