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, an...

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Detalhes bibliográficos

Publicado no:	BMC Genet
Principais autores:	Dreumont, Natacha, Poudrier, Jacques A, Bergeron, Anne, Levy, Harvey L, Baklouti, Faouzi, Tanguay, Robert M
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2001
Assuntos:	Research Article
Acesso em linha:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC35353/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/11476670/ https://ncbi.nlm.nih.govhttps://doi.org/10.1186/1471-2156-2-9
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