Two Novel Mutations in the GDAP1 and PRX Genes in Early Onset Charcot-Marie-Tooth Syndrome

Autosomal recessive Charcot-Marie-Tooth syndrome (AR-CMT) is often characterised by an infantile disease onset and a severe phenotype. Mutations in the ganglioside-induced differentiation-associated protein 1 (GDAP1) gene are thought to be a common cause of AR-CMT. Mutations in the periaxin (PRX) ge...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Main Authors: Auer-Grumbach, M., Fischer, C., Papić, L., John, E., Plecko, B., Bittner, R. E., Bernert, G., Pieber, T. R., Miltenberger, G., Schwarz, R., Windpassinger, C., Grill, F., Timmerman, V., Speicher, M. R., Janecke, A. R.
Format: Artigo
Sprog:Inglês
Udgivet: 2008
Fag:
Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3272394/
https://ncbi.nlm.nih.gov/pubmed/18504680
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-2008-1077085
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker