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

dc.contributor.authorRaj, K.
dc.contributor.authorGiger, U.
dc.contributor.authorLehman, S.
dc.contributor.authorHillstrom, A.
dc.contributor.authorGultekin, G. Inal
dc.date.accessioned2021-03-03T08:59:05Z
dc.date.available2021-03-03T08:59:05Z
dc.date.issued2012
dc.identifier.citationGultekin G. I. , Raj K., Lehman S., Hillstrom A., Giger U., "Missense mutation in PFKM associated with muscle-type phosphofructokinase deficiency in the Wachtelhund dog", MOLECULAR AND CELLULAR PROBES, cilt.26, sa.6, ss.243-247, 2012
dc.identifier.issn0890-8508
dc.identifier.othervv_1032021
dc.identifier.otherav_1a8d8c32-0953-44ca-9e21-2687b570ee2e
dc.identifier.urihttp://hdl.handle.net/20.500.12627/23135
dc.identifier.urihttps://doi.org/10.1016/j.mcp.2012.02.004
dc.description.abstractHereditary 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.
dc.language.isoeng
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectTemel Tıp Bilimleri
dc.subjectBiyokimya
dc.subjectHistoloji-Embriyoloji
dc.subjectYaşam Bilimleri
dc.subjectBiyoteknoloji
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectSitogenetik
dc.subjectTemel Bilimler
dc.subjectMikrobiyoloji
dc.subjectHÜCRE BİYOLOJİSİ
dc.subjectBİYOTEKNOLOJİ VE UYGULAMALI MİKROBİYOLOJİ
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectBİYOKİMYA VE MOLEKÜLER BİYOLOJİ
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectBiyoloji ve Biyokimya
dc.subjectBİYOKİMYASAL ARAŞTIRMA YÖNTEMLERİ
dc.titleMissense mutation in PFKM associated with muscle-type phosphofructokinase deficiency in the Wachtelhund dog
dc.typeMakale
dc.relation.journalMOLECULAR AND CELLULAR PROBES
dc.contributor.department, ,
dc.identifier.volume26
dc.identifier.issue6
dc.identifier.startpage243
dc.identifier.endpage247
dc.contributor.firstauthorID697273


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