Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1

Hereditary tyrosinemia type 1 (HT1) (OMIM 276700) is a severe inherited metabolic disease affecting mainly hepatic and renal functions that leads to a fatal outcome if untreated. HT1 results from a deficiency of the last enzyme of tyrosine catabolism, fumarylacetoacetate hydrolase (FAH). Biochemical...

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Detalhes bibliográficos
Publicado no:JIMD Rep
Main Authors: Angileri, Francesca, Bergeron, Anne, Morrow, Geneviève, Lettre, Francine, Gray, George, Hutchin, Tim, Ball, Sarah, Tanguay, Robert M.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4501228/
https://ncbi.nlm.nih.gov/pubmed/25681080
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2014_363
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