A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation (Q24801586)
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(P577) Friday, June 29, 2001
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(P1476) "A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation" (language: en)
(P2093) J A Poudrier
A Bergeron
H L Levy
F Baklouti
R M Tanguay
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