title: Mutational analysis of COASY in an Italian patient with NBIA.
authors.affiliation: Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy. Electronic address: grazia.annesi@cnr.it.
authors.forename: Grazia
authors.initials: G
authors.lastname: Annesi
authors.affiliation: Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy.
authors.forename: Monica
authors.initials: M
authors.lastname: Gagliardi
authors.affiliation: Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy.
authors.forename: Grazia
authors.initials: G
authors.lastname: Iannello
authors.affiliation: Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy.
authors.forename: Aldo
authors.initials: A
authors.lastname: Quattrone
authors.affiliation: Institute of Neurology, Department of Medical and Surgical Sciences, University Magna Graecia, Catanzaro, Italy.
authors.forename: Grazia
authors.initials: G
authors.lastname: Iannello
authors.affiliation: Institute of Neurology, Department of Medical and Surgical Sciences, University Magna Graecia, Catanzaro, Italy.
authors.forename: Aldo
authors.initials: A
authors.lastname: Quattrone
mesh_terms: D000293:Adolescent; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D019189:Iron Metabolism Disorders / Q000235:genetics*; D007558:Italy; D009154:Mutation / Q000235:genetics; D019150:Neuroaxonal Dystrophies / Q000235:genetics*; D010375:Pedigree; D014166:Transferases / Q000235:genetics*
chemical_list: D004247:DNA; D014166:Transferases; C509687:COASY protein, human