Article
Point mutations in the murine fumarylacetoacetate hydrolase gene: Animal models for the human genetic disorder hereditary tyrosinemia type 1.
Proceedings of the National Academy of Sciences of the United States of America - 16 Jan 2001
Aponte J L, Sega G A, Hauser L J, Dhar M S, Withrow C M, Carpenter D A, Rinchik E M, Culiat C T, Johnson D K
Abstract excerpt
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 during the first months of life because of hepatic failure, whereas a chronic form leads to gradual development of liver disease often accompanied by renal dysfunction,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.