Point mutations in the murine fumarylacetoacetate hydrolase gene: Animal models for the human genetic disorder hereditary tyrosinemia type 1

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 failu...

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Hlavní autoři: Aponte, Jennifer L., Sega, Gary A., Hauser, Loren J., Dhar, Madhu S., Withrow, Catherine M., Carpenter, Donald A., Rinchik, Eugene M., Culiat, Cymbeline T., Johnson, Dabney K.
Médium: Artigo
Jazyk:Inglês
Vydáno: The National Academy of Sciences 2001
Témata:
Biological Sciences
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC14641/
https://ncbi.nlm.nih.gov/pubmed/11209059
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