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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: Xie, Han, Wang, Jingmin, Dhaunchak, Ajit Singh, Shang, Jing, Kou, Liping, Guo, Mangmang, Wu, Ye, Gu, Qiang, Colman, David, Wu, Xiru, Jiang, Yuwu
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Public Library of Science 2012
Aiheet:
Research Article
Linkit: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
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