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...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: 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.
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Elsevier 2011
Θέματα:
Article
Διαθέσιμο Online: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
Ετικέτες: Προσθήκη ετικέτας
Δεν υπάρχουν, Καταχωρήστε ετικέτα πρώτοι!

Παρόμοια τεκμήρια