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

Publikation: Bidrag till tidskrift › Artikel i vetenskaplig tidskrift › Peer review

Sammanfattning

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.

Originalspråk	Engelska
Sidor (från-till)	243-247
Antal sidor	5
Tidskrift	Molecular and Cellular Probes
Volym	26
Nummer	6
DOI	https://doi.org/10.1016/j.mcp.2012.02.004
Status	Publicerad - 2012

Nyckelord

Hemolytic anemia
Red cell defect
Myopathy
Hereditary disease
Dog

Åtkomst av dokument

10.1016/j.mcp.2012.02.004

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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.",

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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

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DO - 10.1016/j.mcp.2012.02.004

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JO - Molecular and Cellular Probes

JF - Molecular and Cellular Probes

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ER -