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pro vyhledávání: '"Catherine M. Withrow"'
Autor:
Gary A. Sega, Cymbeline T. Culiat, Eugene M. Rinchik, Loren Hauser, Catherine M. Withrow, Dabney K. Johnson, Jennifer L. Aponte, Madhu S Dhar, Donald A. Carpenter
Publikováno v:
Proceedings of the National Academy of Sciences. 98:641-645
Hereditary tyrosinemia type 1 (HT1) is a severe autosomal recessive metabolic disease associated with point mutations in the human fumarylacetoacetate hydrolase ( FAH ) gene that disrupt tyrosine catabolism. An acute form of HT1 results in death duri