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Specific diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in dried blood spots by a polymerase chain reaction (PCR) assay detecting a point-mutation (G985) in the MCAD gene

BiochemistryGenetic DisorderDried Blood SpotsGeneticsMedicineHematologyPathologyLaboratory MedicineDisease Gene IdentificationMcad GeneSpecific DiagnosisMolecular Diagnostics