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Axonopathy in the Central Nervous System Is the Hallmark of Mice with a Novel Intragenic Null Mutation of Dystonin

Dystonia musculorum is a neurodegenerative disorder caused by a mutation in the dystonin gene. It has been described in mice and humans where it is called hereditary sensory autonomic neuropathy. Mutated mice show severe movement disorders and die at the age of 3–4 weeks. This study describes the di...

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Bibliografiske detaljer
Udgivet i:Genetics
Main Authors: Seehusen, Frauke, Kiel, Kirsten, Jottini, Stefano, Wohlsein, Peter, Habierski, Andre, Seibel, Katharina, Vogel, Tanja, Urlaub, Henning, Kollmar, Martin, Baumgärtner, Wolfgang, Teichmann, Ulrike
Format: Artigo
Sprog:Inglês
Udgivet: Genetics Society of America 2016
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5012385/
https://ncbi.nlm.nih.gov/pubmed/27401753
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1534/genetics.116.186932
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