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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Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2013
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On-line přístup: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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