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Items for "P479L"

Molecular assay for detection of the common carnitine palmitoyltransferase 1A 1436(C>T) mutation

Background: Carnitine palmitoyltransferase 1A (CPT1A) deficiency is a metabolic disorder that occurs at a key checkpoint of fatty acid metabolism...

Keywords: 1436 (C>T), carnitine palmitoyltransferase, carnitine palmitoyltransferase 1A (CPT1A), First Nations, Inuit, P479L

09/2006 | Clinical Chemical Laboratory Medicine, Walter de Gruyter