Article
Erythrocyte pyruvate kinase deficiency mutation identified in multiple breeds of domestic cats.
BMC veterinary research - 30 Oct 2012
Grahn Robert A, Grahn Jennifer C, Penedo Maria Ct, Helps Chris R, Lyons Leslie A
Abstract excerpt
BACKGROUND: Erythrocyte pyruvate kinase deficiency (PK deficiency) is an inherited hemolytic anemia that has been documented in the Abyssinian and Somali breeds as well as random bred domestic shorthair cats. The disease results from mutations in PKLR, the gene encoding the regulatory glycolytic enzyme pyruvate kinase (PK). Multiple isozymes are produced by tissue-specific differential processing of PKLR mRNA....
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