The First Case of Korean Boy with Mitochondrial Trifunctional Protein Deficiency Diagnosed by Acylcarnitine Profiles and DNA analysis : A Novel Mutation in the α-subunit of the Mitochondrial Trifunctional Protein and a Unusual Intergenic Sequence with Two Polymorphisms
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- Journal of The Korean Society of Inherited Metabolic disease
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- v.2 no.1
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- pp.12-14
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- 2002