Molecular and functional characterisation of mild MCAD deficiency

• 22 May 2001
• journal article
• research article
• Published by Springer Nature in Human Genetics
• Vol. 108  (5) , 404-408
• https://doi.org/10.1007/s004390100501

Abstract

Keywords

• NEONATAL SCREENING
• DEHYDROGENASE DEFICIENCY
• CONSANGUINEOUS PARENT
• MUTATION K329E
• COMPOUND HETEROZYGOSITY