Associated Papers
Presence of three mutations in the fumarylacetoacetate hydrolase gene in a patient with atypical symptoms of hereditary tyrosinemia type I.
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Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: overview.
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Human Mutation, 1997
Fumarylacetoacetase mutations in tyrosinaemia type I.
Rootwelt H et al.
Human Mutation, 1996
Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity.
Labelle Y et al.
Human Molecular Genetics, 1993
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