Article
Fumarylacetoacetase mutations in tyrosinaemia type I.
Human mutation - 1 Jan 1996
Rootwelt H, Høie K, Berger R, Kvittingen E A
Abstract excerpt
Sixty-two hereditary tyrosinaemia type I (HT1) patients of various ethnic origins were classified clinically into acute, chronic, or intermediate phenotypes and screened for the 14 published causal mutations in the fumarylacetoacetase (FAH) gene. Restriction analysis of PCR amplified genomic DNA...
Topics
- Alleles
- Amino Acid Metabolism, Inborn Errors
- Base Sequence
- DNA Primers
- Electrophoresis, Agar Gel
- Genotype
- Humans
- Hydrolases
- Molecular Sequence Data
- Mutation
- Phenotype
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length
- RNA Splicing
- Tyrosine