A mutation in the Tubb4a gene leads to microtubule accumulation with hypomyelination and demyelination

OBJECTIVE: Our goal was to define the genetic cause of the profound hypomyelination in the taiep rat model and determine its relevance to human white matter disease. METHODS: Based on previous localization of the taiep mutation to rat chromosome 9, we tested if the mutation resided within the Tubb4a...

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Publié dans:Ann Neurol
Auteurs principaux: Duncan, Ian D., Bugiani, Marianna, Radcliff, Abigail B., Moran, John J., Lopez-Anido, Camila, Duong, Phu, August, Benjamin K., Wolf, Nicole I., van der Knaap, Marjo S., Svaren, John
Format: Artigo
Langue:Inglês
Publié: 2017
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5495199/
https://ncbi.nlm.nih.gov/pubmed/28393430
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.24930
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