Article
Novel and recurrent tyrosine aminotransferase gene mutations in tyrosinemia type II.
Human genetics - 1 Mar 1998
Hühn R, Stoermer H, Klingele B, Bausch E, Fois A, Farnetani M, Di Rocco M, Boué J, Kirk J M, Coleman R, Scherer G
Abstract excerpt
Tyrosinemia type II (Richner-Hanhart syndrome, RHS) is a disorder of autosomal recessive inheritance characterized by keratitis, palmoplantar hyperkeratosis, mental retardation, and elevated blood tyrosine levels. The disease results from deficiency in hepatic tyrosine aminotransferase (TAT). We...
Topics
- Adult
- Amino Acid Metabolism, Inborn Errors
- Amino Acid Sequence
- Amino Acid Substitution
- Consanguinity
- DNA Mutational Analysis
- Escherichia coli
- Exons
- Female
- Gene Expression
- Haplotypes
- Humans
- Infant
- Infant, Newborn
- Italy
- Male
- Molecular Sequence Data
- Mutation