Article
Hereditary tyrosinemia type I: strong association with haplotype 6 in French Canadians permits simple carrier detection and prenatal diagnosis.
American journal of human genetics - 1 Aug 1994
Demers S I, Phaneuf D, Tanguay R M
Abstract excerpt
Hereditary tyrosinemia type 1 (HT1), a severe inborn error of tyrosine catabolism, is caused by deficiency of the terminal enzyme, fumarylacetoacetate hydrolase (FAH). The highest reported frequency of HT1 is in the French Canadian population, especially in the Saguenay-Lac-St-Jean region. Using...
Topics
- Amino Acid Metabolism, Inborn Errors
- Child
- France
- Gene Frequency
- Genetic Carrier Screening
- Haplotypes
- Humans
- Hydrolases
- Mutation
- Pedigree
- Polymorphism, Restriction Fragment Length
- Prenatal Diagnosis
- Quebec
- Tyrosine