Article
Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I.
American journal of human genetics - 1 Dec 1994
Rootwelt H, Brodtkorb E, Kvittingen E A
Abstract excerpt
In healthy individuals, fumarylacetoacetase (FAH) activities close to the range found in hereditary tyrosinemia type 1 (HT1) patients indicated the existence of a "pseudodeficiency" allele. In an individual homozygous for pseudodeficiency of FAH and in three HT1 families also carrying the pseudod...
Topics
- Base Sequence
- Female
- Gene Frequency
- Genes, Recessive
- Genome, Human
- Humans
- Hydrolases
- Male
- Metabolism, Inborn Errors
- Molecular Sequence Data
- Mutagenesis
- Mutation
- Polymerase Chain Reaction
- Sequence Analysis
- Tyrosine