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...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Main Authors: 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
Sprog:Inglês
Udgivet: Elsevier 2011
Fag:
Article
Online adgang: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
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker