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

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Natacha Dreumont, Jacques A Poudrier, Anne Bergeron, Harvey L Levy, Faouzi Baklouti and Robert M Tanguay^*

BMC Genetics 2001, 2:9 doi:10.1186/1471-2156-2-9