Article
Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase.
Human genetics - 1 Jun 1994
Rootwelt H, Chou J, Gahl W A, Berger R, Coşkun T, Brodtkorb E, Kvittingen E A
Abstract excerpt
Hereditary tyrosinemia type 1, due to a deficiency of fumarylacetoacetase (FAH), is characterized by progressive liver damage and renal tubular dysfunction and may occur in an acute or a chronic form. An Ala 134 to Asp (GCT to GAT) transition was found in one Turkish and two Norwegian patients with chronic tyrosinemia. SphI digestion of polymerase chain reaction (PCR) amplified genomic DNA identified the mutation...
Topics
- Amino Acid Metabolism, Inborn Errors
- Base Sequence
- Cells, Cultured
- DNA Primers
- Female
- Humans
- Hydrolases
- Liver
- Male
- Molecular Sequence Data
- Mutation