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