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

✍ Scribed by Natacha Dreumont; Jacques A Poudrier; Anne Bergeron; Harvey L Levy; Faouzi Baklouti; Robert M Tanguay


Book ID
115002833
Publisher
BioMed Central
Year
2001
Tongue
English
Weight
766 KB
Volume
2
Category
Article
ISSN
1471-2156

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Tyrosinemia type 1 β€” complex splicing de
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Two mutations are reported in six tyrosinemia type 1 patients from northern Europe. In four patients, a G to A transition at nucleotide position 1009 (G1009-->A) of the fumarylacetoacetase (FAH) coding sequence caused aberrant splicing by introducing an acceptor splice site within exon 12, thereby d