title: Gene symbol: FAH. Disease: tyrosinaemia 1.
authors.affiliation: Unitat de Malalties Neurometabóliques, Hospital Materno-Infantil Vall d'Hebron, Barcelona, Spain. jaarranz@vhebron.net
authors.forename: A
authors.initials: A
authors.lastname: Arranz
authors.forename: D
authors.initials: D
authors.lastname: Rigante
authors.forename: D
authors.initials: D
authors.lastname: Antuzzi
authors.forename: E
authors.initials: E
authors.lastname: Riudor
mesh_terms: D019943:Amino Acid Substitution; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D006801:Humans; D006867:Hydrolases / Q000235:genetics*; D020125:Mutation, Missense; D020176:Tyrosinemias / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D006867:Hydrolases; C020156:fumarylacetoacetase