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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2013
Assuntos:
Articles
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados