title: Genetic heterogeneity in MCAD deficiency: frequency of K329E allele and identification of three additional mutant alleles.
authors.affiliation: Department of Pediatrics, Duke University Durham, NC 27710.
authors.forename: J H
authors.initials: JH
authors.lastname: Ding
authors.forename: P
authors.initials: P
authors.lastname: Bross
authors.forename: B Z
authors.initials: BZ
authors.lastname: Yang
authors.forename: A K
authors.initials: AK
authors.lastname: Iafolla
authors.forename: D S
authors.initials: DS
authors.lastname: Millington
authors.forename: C R
authors.initials: CR
authors.lastname: Roe
authors.forename: N
authors.initials: N
authors.lastname: Gregersen
authors.forename: Y T
authors.initials: YT
authors.lastname: Chen
mesh_terms: D042964:Acyl-CoA Dehydrogenase; D000483:Alleles; D001483:Base Sequence; D003001:Cloning, Molecular; D004247:DNA / Q000235:genetics; D004926:Escherichia coli / Q000235:genetics; D044943:Fatty Acid Desaturases / Q000172:deficiency* / Q000235:genetics*; D015964:Gene Expression Regulation, Bacterial / Q000502:physiology; D005787:Gene Frequency / Q000235:genetics*; D015894:Genome, Human; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000201:enzymology / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics
chemical_list: D004247:DNA; D044943:Fatty Acid Desaturases; D042964:Acyl-CoA Dehydrogenase