Journal Article
Missense mutation in PFKM associated with muscle-type phosphofructokinase deficiency in the Wachtelhund dog.
First published description of the causal variant.
Inal Gultekin, G., Raj, K., Lehman, S., Hillström, A., Giger, U. : Missense mutation in PFKM associated with muscle-type phosphofructokinase deficiency in the Wachtelhund dog. Mol Cell Probes 26:243-7, 2012. Pubmed reference: 22446493. DOI: 10.1016/j.mcp.2012.02.004.
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Inal Gultekin, G., Raj, K., Lehman, S., Hillström, A., Giger, U.
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