title: Identification of the molecular defects responsible for the various genotypes of isovaleric acidemia.
authors.affiliation: Department of Human Genetics, Yale University School of Medicine, New Haven, CT 06510.
authors.forename: J
authors.initials: J
authors.lastname: Vockley
authors.forename: B
authors.initials: B
authors.lastname: Parimoo
authors.forename: M
authors.initials: M
authors.lastname: Nagao
authors.forename: K
authors.initials: K
authors.lastname: Tanaka
mesh_terms: D000483:Alleles; D000595:Amino Acid Sequence; D001483:Base Sequence; D004247:DNA / Q000235:genetics*; D005347:Fibroblasts / Q000502:physiology; D014644:Genetic Variation / Q000235:genetics*; D015894:Genome, Human; D005838:Genotype; D045782:Hemiterpenes; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D010421:Pentanoic Acids / Q000097:blood*; D016133:Polymerase Chain Reaction; D012016:Reference Values
chemical_list: D045782:Hemiterpenes; D010421:Pentanoic Acids; C008216:isovaleric acid; D004247:DNA