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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Detalhes bibliográficos

Publicado no:	Proc Natl Acad Sci U S A
Principais autores:	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.
Formato:	Artigo
Idioma:	Inglês
Publicado em:	National Academy of Sciences 2001
Assuntos:	Biological Sciences
Acesso em linha:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC14641/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/11209059/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.98.2.641
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