Missense mutation in PFKM associated with muscle-type phosphofructokinase deficiency in the Wachtelhund dog
Tarih
2012Yazar
Raj, K.
Giger, U.
Lehman, S.
Hillstrom, A.
Gultekin, G. Inal
Üst veri
Tüm öğe kaydını gösterÖzet
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.
Koleksiyonlar
- Makale [92796]