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


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

MOLECULAR AND CELLULAR PROBES, cilt.26, ss.243-247, 2012 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 26 Konu: 6
  • Basım Tarihi: 2012
  • Doi Numarası: 10.1016/j.mcp.2012.02.004
  • Dergi Adı: MOLECULAR AND CELLULAR PROBES
  • Sayfa Sayıları: ss.243-247

Özet

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.