title: Mutation screening for tyrosinaemia type I.
abstract: This study reports the development of a mutation screening strategy for tyrosinaemia type I, and the identification of six novel mutations in the FAA gene.
authors.affiliation: Clinical Chemistry Department, Birmingham Children's Hospital, Birmingham, UK. stephanie.heath@bhamchildrens.wmids.nhs.uk
authors.forename: S K
authors.initials: SK
authors.lastname: Heath
authors.forename: R G F
authors.initials: RG
authors.lastname: Gray
authors.forename: P
authors.initials: P
authors.lastname: McKiernan
authors.forename: K M
authors.initials: KM
authors.lastname: Au
authors.forename: E
authors.initials: E
authors.lastname: Walker
authors.forename: A
authors.initials: A
authors.lastname: Green
mesh_terms: D002874:Chromosome Mapping; D003241:Consanguinity; D004247:DNA / Q000235:genetics; D005091:Exons / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D006867:Hydrolases / Q000172:deficiency / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D020176:Tyrosinemias / Q000188:drug therapy / Q000235:genetics*
chemical_list: D004247:DNA; D006867:Hydrolases; C020156:fumarylacetoacetase