A missense mutation (Q279R) in the Fumarylacetoacetate Hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation

BACKGROUND: Tyrosinemia type I, the most severe disease of the tyrosine catabolic pathway is caused by a deficiency in fumarylacetoacetate hydrolase (FAH). A patient showing few of the symptoms associated with the disease, was found to be a compound heterozygote for a splice mutation, IVS6-1g->t,...

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Autores principales: Dreumont, Natacha, Poudrier, Jacques A, Bergeron, Anne, Levy, Harvey L, Baklouti, Faouzi, Tanguay, Robert M
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2001
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC35353/
https://ncbi.nlm.nih.gov/pubmed/11476670
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2156-2-9
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