Načítá se...

A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease

Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuropathy resulting from mutations in >30 genes expressed in either the Schwann cells or the axon of peripheral nerves. The disease is classified into demyelinating (CMT1), axonal (CMT2) or intermediate (CMTI) based on electrophysio...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: Nicolaou, Paschalis, Cianchetti, Carlo, Minaidou, Anna, Marrosu, Giovanni, Zamba-Papanicolaou, Eleni, Middleton, Lefkos, Christodoulou, Kyproula
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2013
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3548253/
https://ncbi.nlm.nih.gov/pubmed/22781092
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.146
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!