title: Molecular heterogeneity of beta-ETF deficiency in glutaric aciduria type II.
authors.affiliation: Department of Biochemistry and Genetics, Istituto Nazionale Neurologico, Milano, Italy.
authors.forename: I
authors.initials: I
authors.lastname: Colombo
authors.forename: S
authors.initials: S
authors.lastname: DiDonato
authors.forename: M
authors.initials: M
authors.lastname: Volta
authors.forename: C
authors.initials: C
authors.lastname: Gellera
authors.forename: B
authors.initials: B
authors.lastname: Garavaglia
authors.forename: L
authors.initials: L
authors.lastname: Montermini
authors.forename: S
authors.initials: S
authors.lastname: Yamaguchi
authors.forename: S I
authors.initials: SI
authors.lastname: Goodman
authors.forename: F E
authors.initials: FE
authors.lastname: Frerman
authors.forename: G
authors.initials: G
authors.lastname: Finocchiaro
mesh_terms: D000483:Alleles; D015152:Blotting, Northern; D002460:Cell Line; D003001:Cloning, Molecular; D004277:DNA, Single-Stranded / Q000235:genetics; D044927:Electron-Transferring Flavoproteins; D005420:Flavoproteins / Q000235:genetics / Q000378:metabolism*; D017353:Gene Deletion; D015723:Gene Library; D005977:Glutarates / Q000652:urine*; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000652:urine*; D016133:Polymerase Chain Reaction
chemical_list: D004277:DNA, Single-Stranded; D044927:Electron-Transferring Flavoproteins; D005420:Flavoproteins; D005977:Glutarates; C035736:glutaric acid