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

Atıf İçin Kopyala

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

MOLECULAR AND CELLULAR PROBES, cilt.26, sa.6, ss.243-247, 2012 (SCI-Expanded)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 26 Sayı: 6
Basım Tarihi: 2012
Doi Numarası: 10.1016/j.mcp.2012.02.004
Dergi Adı: MOLECULAR AND CELLULAR PROBES
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.243-247
İstanbul Üniversitesi Adresli: Hayır

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.