Article
The human fumarylacetoacetase gene: characterisation of restriction fragment length polymorphisms and identification of haplotypes in tyrosinemia type 1 and pseudodeficiency.
Human genetics - 1 May 1992
Rootwelt H, Kvittingen E A, Høie K, Agsteribbe E, Hartog M, van Faassen H, Berger R
Abstract excerpt
Deficiency of human fumarylacetoacetase (FAH) activity results in hereditary tyrosinemia type I. Using the restriction enzymes BglII, KpnI and StuI and a 1.3-kb cDNA probe for the FAH gene, we have found 6 restriction fragment length polymorphisms (RFLPs). These RFLPs were utilised in 3 tyrosinem...
Topics
- Alleles
- Amino Acid Metabolism, Inborn Errors
- Female
- Gene Frequency
- Haplotypes
- Humans
- Hydrolases
- Male
- Pedigree
- Polymorphism, Restriction Fragment Length
- Tyrosine