Article
Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient.
The Journal of clinical investigation - 1 Oct 1992
Phaneuf D, Lambert M, Laframboise R, Mitchell G, Lettre F, Tanguay R M
Abstract excerpt
Type 1 hereditary tyrosinemia (HT1) is a metabolic disorder caused by a deficiency of fumarylacetoacetate hydrolase (FAH). Using a full-length FAH cDNA and specific antibodies, we investigated liver specimens from seven unrelated HT1 patients (six of French Canadian and one of Scandinavian origin...
Topics
- Adolescent
- Amino Acid Metabolism, Inborn Errors
- Base Sequence
- Child
- Child, Preschool
- Female
- Humans
- Hydrolases
- Infant
- Male
- Molecular Sequence Data
- Mutation
- RNA, Messenger
- Tyrosine