N. Dreumont
Laboratory of Cellular and Developmental Genetics
Dept Medicine
Pavillon Marchand
Université Laval
Canada
Name/email consistency: low
- A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation. Dreumont, N., Poudrier, J.A., Bergeron, A., Levy, H.L., Baklouti, F., Tanguay, R.M. BMC Genet. (2001)