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Megalencephalic leukoencephalopathy with cysts: the Glialcam‐null mouse model

OBJECTIVE: Megalencephalic leukoencephalopathy with cysts (MLC) is a genetic infantile‐onset disease characterized by macrocephaly and white matter edema due to loss of MLC1 function. Recessive mutations in either MLC1 or GLIALCAM cause the disease. MLC1 is involved in astrocytic volume regulation;...

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Detalles Bibliográficos
Autores principales: Bugiani, Marianna, Dubey, Mohit, Breur, Marjolein, Postma, Nienke L., Dekker, Marien P., ter Braak, Timo, Boschert, Ursula, Abbink, Truus E. M., Mansvelder, Huibert D., Min, Rogier, van Weering, Jan R. T., van der Knaap, Marjo S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5497535/
https://www.ncbi.nlm.nih.gov/pubmed/28695146
http://dx.doi.org/10.1002/acn3.405