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

Gultekin, G.; Raj, K.; Lehman, S.; Hillstrom, A.; Giger, U.

doi:10.1016/j.mcp.2012.02.004

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

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Gultekin G. I., Raj K., Lehman S., Hillstrom A., Giger U.

MOLECULAR AND CELLULAR PROBES, vol.26, no.6, pp.243-247, 2012 (SCI-Expanded)

Publication Type: Article / Article
Volume: 26 Issue: 6
Publication Date: 2012
Doi Number: 10.1016/j.mcp.2012.02.004
Journal Name: MOLECULAR AND CELLULAR PROBES
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Page Numbers: pp.243-247
Istanbul University Affiliated: No

Abstract

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 missense mutation associated with PFK deficiency in Wachtelhunds.