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Missense mutation in PFKM associated with muscle-type phosphofructokinase deficiency in the Wachtelhund dog

Hereditary muscle-type phosphofructokinase (PFK) deficiency causing intermittent hemolytic anemia and exertional myopathy due to a single nonsense mutation in PFKM has been previously described in English Springer and American Cocker Spaniels, Whippets, and mixed breed dogs. We report here on a new...

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Detalhes bibliográficos
Main Authors: Gultekin, G. Inal, Raj, K., Lehman, S., Hillström, A., Giger, U.
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3485442/
https://ncbi.nlm.nih.gov/pubmed/22446493
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.mcp.2012.02.004
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