N Dreumont J A Poudrier A Bergeron H L Levy F Baklouti R M Tanguay
10.1186/1471-2156-2-9
BMC Genet
2001;2:9.
NO-CC CODE
https://pubmed.ncbi.nlm.nih.gov/11476670/
Genetic Predisposition to Disease Hydrolases / genetics Mutation, Missense RNA Splicing Tyrosinemias / genetics
Genetic Predisposition to Disease Hydrolases / genetics Mutation, Missense RNA Splicing Tyrosinemias / genetics Case Reports Research Support, Non-U.S. Gov't DNA Mutational Analysis Female Fibroblasts / metabolism Humans Hydrolases / metabolism Infant Liver / metabolism Mutation RNA, Messenger / metabolism Tyrosinemias / metabolism RNA, Messenger Hydrolases fumarylacetoacetase
PMC35353
11476670
A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation
2001