Six novel mutations in the fumarylacetoacetate hydrolase gene of patients with hereditary tyrosinemia type I.
Timmers
C
C
Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland 97201, USA.
Grompe
M
M
D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D001483:Base Sequence; D017931:DNA Primers; D005838:Genotype; D006801:Humans; D006867:Hydrolases / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D012326:RNA Splicing; D014443:Tyrosine / Q000097:blood*
D017931:DNA Primers; D014443:Tyrosine; D006867:Hydrolases; C020156:fumarylacetoacetase