A De Novo Mutation in the β-Tubulin Gene TUBB4A Results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum

Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a rare hereditary leukoencephalopathy that was originally identified by MRI pattern analysis, and it has thus far defied all attempts at identifying the causal mutation. Only 22 cases are published in the literature to date....

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Detaylı Bibliyografya
Asıl Yazarlar: Simons, Cas, Wolf, Nicole I., McNeil, Nathan, Caldovic, Ljubica, Devaney, Joseph M., Takanohashi, Asako, Crawford, Joanna, Ru, Kelin, Grimmond, Sean M., Miller, David, Tonduti, Davide, Schmidt, Johanna L., Chudnow, Robert S., van Coster, Rudy, Lagae, Lieven, Kisler, Jill, Sperner, Jürgen, van der Knaap, Marjo S., Schiffmann, Raphael, Taft, Ryan J., Vanderver, Adeline
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Elsevier 2013
Konular:
Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3644625/
https://ncbi.nlm.nih.gov/pubmed/23582646
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.03.018
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