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.

Niels Gregersen,Alexandra I. F. Blakemore,V. Winter,Brage S. Andresen,Steen Kølvraa,Lars Bolund,D. Curtis,P. Engel

Published 1991 in Clinica chimica acta; international journal of clinical chemistry

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