Article
A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I.
The New England journal of medicine - 11 Aug 1994
Grompe M, St-Louis M, Demers S I, al-Dhalimy M, Leclerc B, Tanguay R M
Abstract excerpt
BACKGROUND: Hereditary tyrosinemia type I is an autosomal recessive inborn error of metabolism caused by a deficiency of the enzyme fumarylacetoacetate hydrolase. The disorder clusters in the Saguenay-Lac-St.-Jean area of Quebec. In this region, 1 of 1846 newborns is affected and 1 of every 22 pe...
Topics
- Alleles
- Amino Acid Metabolism, Inborn Errors
- Base Sequence
- DNA Primers
- Feasibility Studies
- Heterozygote
- Humans
- Hydrolases
- Infant, Newborn
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Quebec
- Tyrosine