Wird geladen...

Functional Studies of MLC1 Mutations in Chinese Patients with Megalencephalic Leukoencephalopathy with Subcortical Cysts

Megalencephalic leukoencephalopathy with subcortical cysts (MLC, MIM# 604004) is an autosomal recessive inherited disease mostly resulting from MLC1 mutations. In this study, we finished the functional analysis of MLC1 mutations identified recently in Chinese patients, including five newly described...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Hauptverfasser: Xie, Han, Wang, Jingmin, Dhaunchak, Ajit Singh, Shang, Jing, Kou, Liping, Guo, Mangmang, Wu, Ye, Gu, Qiang, Colman, David, Wu, Xiru, Jiang, Yuwu
Format: Artigo
Sprache:Inglês
Veröffentlicht: Public Library of Science 2012
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3293920/
https://ncbi.nlm.nih.gov/pubmed/22416245
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0033087
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!