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

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

doi:10.1016/j.mcp.2012.02.004

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

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

Publication: Contribution to journal › Journal article › peer-review

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.

Original language	English
Pages (from-to)	243-247
Number of pages	5
Journal	Molecular and Cellular Probes
Volume	26
Issue number	6
DOIs	https://doi.org/10.1016/j.mcp.2012.02.004
Publication status	Published - 2012

Keywords

Hemolytic anemia
Red cell defect
Myopathy
Hereditary disease
Dog

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10.1016/j.mcp.2012.02.004

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title = "Missense mutation in PFKM associated with muscle-type phosphofructokinase deficiency in the Wachtelhund dog",

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, Hemolytic anemia, Red cell defect, Myopathy, Hereditary disease, Dog",

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pages = "243--247",

journal = "Molecular and Cellular Probes",

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T1 - Missense mutation in PFKM associated with muscle-type phosphofructokinase deficiency in the Wachtelhund dog

AU - Gultekin, G. Inal

AU - Raj, K.

AU - Lehman, S.

AU - Hillström, Anna

AU - Giger, U.

PY - 2012

Y1 - 2012

N2 - 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.

AB - 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.

KW - Hemolytic anemia

KW - Red cell defect

KW - Myopathy

KW - Hereditary disease

KW - Dog

KW - Hemolytic anemia

KW - Red cell defect

KW - Myopathy

KW - Hereditary disease

KW - Dog

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

U2 - 10.1016/j.mcp.2012.02.004

DO - 10.1016/j.mcp.2012.02.004

M3 - Journal article

SN - 0890-8508

VL - 26

SP - 243

EP - 247

JO - Molecular and Cellular Probes

JF - Molecular and Cellular Probes

IS - 6

ER -

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

Abstract

Keywords

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