TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes

Hypomyelinating leukodystrophies are heritable disorders defined by lack of development of brain myelin, but the cellular mechanisms of hypomyelination are often poorly understood. Mutations in TUBB4A, encoding the tubulin isoform tubulin beta class IVA (Tubb4a), result in the symptom complex of hyp...

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Publicado en:Hum Mol Genet
Autores principales: Curiel, Julian, Rodríguez Bey, Guillermo, Takanohashi, Asako, Bugiani, Marianna, Fu, Xiaoqin, Wolf, Nicole I, Nmezi, Bruce, Schiffmann, Raphael, Bugaighis, Mona, Pierson, Tyler, Helman, Guy, Simons, Cas, van der Knaap, Marjo S, Liu, Judy, Padiath, Quasar, Vanderver, Adeline
Formato: Artigo
Lenguaje:Inglês
Publicado: Oxford University Press 2017
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Articles
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7462055/
https://ncbi.nlm.nih.gov/pubmed/28973395
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddx338
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