Structural organization and analysis of the human fumarylacetoacetate hydrolase gene in tyrosinemia type I.

doi:10.1016/0925-4439(94)90025-6

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Article

Structural organization and analysis of the human fumarylacetoacetate hydrolase gene in tyrosinemia type I.

Biochimica et biophysica acta - 25 May 1994

Awata H, Endo F, Tanoue A, Kitano A, Nakano Y, Matsuda I

Abstract excerpt

Fumarylacetoacetate hydrolase (FAH) is a metabolic enzyme functioning at the last step of tyrosine catabolism. Deficiency in this enzyme activity is associated with tyrosinemia type I, characterized by hypertyrosinemia, liver dysfunction, renal tubular dysfunction, liver cirrhosis, and hepatic tu...

Topics

Base Sequence
Cells, Cultured
DNA, Complementary
Exons
Humans
Hydrolases
Molecular Sequence Data
Mutation
Transfection
Tyrosine

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