Missense mutation in PFKM associated with muscle-type phosphofructokinase deficiency in the Wachtelhund dog
Date
2012Author
Raj, K.
Giger, U.
Lehman, S.
Hillstrom, A.
Gultekin, G. Inal
Metadata
Show full item recordAbstract
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.
Collections
- Makale [92796]