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A COLQ Missense Mutation in Labrador Retrievers Having Congenital Myasthenic Syndrome

Congenital myasthenic syndromes (CMSs) are heterogeneous neuromuscular disorders characterized by skeletal muscle weakness caused by disruption of signal transmission across the neuromuscular junction (NMJ). CMSs are rarely encountered in veterinary medicine, and causative mutations have only been i...

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書誌詳細
主要な著者: Rinz, Caitlin J., Levine, Jonathan, Minor, Katie M., Humphries, Hammon D., Lara, Renee, Starr-Moss, Alison N., Guo, Ling T., Williams, D. Colette, Shelton, G. Diane, Clark, Leigh Anne
フォーマット: Artigo
言語:Inglês
出版事項: Public Library of Science 2014
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4148433/
https://ncbi.nlm.nih.gov/pubmed/25166616
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0106425
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