Mutation screening for tyrosinaemia type I.
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.
Heath
S K
SK
Clinical Chemistry Department, Birmingham Children's Hospital, Birmingham, UK. stephanie.heath@bhamchildrens.wmids.nhs.uk
Gray
R G F
RG
McKiernan
P
P
Au
K M
KM
Walker
E
E
Green
A
A
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*
D004247:DNA; D006867:Hydrolases; C020156:fumarylacetoacetase