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Exome sequencing reveals a nebulin nonsense mutation in a dog model of nemaline myopathy

Nemaline myopathy (NM) is a congenital muscle disorder associated with muscle weakness, hypotonia, and rod bodies in the skeletal muscle fibers. Mutations in 10 genes have been implicated in human NM, but spontaneous cases in dogs have not been genetically characterized. We identified a novel recess...

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Bibliografiska uppgifter
I publikationen:Mamm Genome
Huvudupphovsmän: Evans, Jacquelyn M., Cox, Melissa L., Huska, Jonathan, Li, Frank, Gaitero, Luis, Guo, Ling T., Casal, Margaret L., Granzier, Henk L., Shelton, G. Diane, Clark, Leigh Anne
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2016
Ämnen:
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC5100356/
https://ncbi.nlm.nih.gov/pubmed/27215641
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00335-016-9644-9
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