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

Gultekin, G. Inal; Raj, K.; Lehman, S.; Hillström, Anna; Giger, U.

doi:10.1016/j.mcp.2012.02.004

Research article2012Peer reviewedOpen access

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

Gultekin, G. Inal; Raj, K.; Lehman, S.; Hillström, Anna; Giger, U.

Abstract

Despite their similar phenotypic appearance and use for hunting. Wachtelhunds and English Springer Spaniels are not thought to have common ancestors. Thus, it is not surprising that different mutations are responsible for PFK deficiency in these breeds. Knowledge of the molecular basis of PFK deficiency in Wachtelhunds provides an opportunity to screen and control the spread of this deleterious trait. (C) 2012 Elsevier Ltd. All rights reserved.

Keywords

Hemolytic anemia; Red cell defect; Myopathy; Hereditary disease; Dog

Published in

Molecular and Cellular Probes
2012, Volume: 26, number: 6, pages: 243-247
Publisher: ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD

SLU Authors

Hillström, Anna
- Department of Clinical Sciences, Swedish University of Agricultural Sciences

UKÄ Subject classification

Biochemistry and Molecular Biology

Publication identifier

DOI: https://doi.org/10.1016/j.mcp.2012.02.004

Permanent link to this page (URI)

https://res.slu.se/id/publ/44835