Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity

Inherited white-matter disorders are a broad class of diseases for which treatment and classification are both challenging. Indeed, nearly half of the children presenting with a leukoencephalopathy remain without a specific diagnosis. Here, we report on the application of high-throughput genome and...

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Detalhes bibliográficos
Main Authors: Taft, Ryan J., Vanderver, Adeline, Leventer, Richard J., Damiani, Stephen A., Simons, Cas, Grimmond, Sean M., Miller, David, Schmidt, Johanna, Lockhart, Paul J., Pope, Kate, Ru, Kelin, Crawford, Joanna, Rosser, Tena, de Coo, Irenaeus F.M., Juneja, Monica, Verma, Ishwar C., Prabhakar, Prab, Blaser, Susan, Raiman, Julian, Pouwels, Petra J.W., Bevova, Marianna R., Abbink, Truus E.M., van der Knaap, Marjo S., Wolf, Nicole I.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2013
Assuntos:
Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3644624/
https://ncbi.nlm.nih.gov/pubmed/23643384
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.04.006
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