Article
Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II.
Proceedings of the National Academy of Sciences of the United States of America - 1 Oct 1992
Natt E, Kida K, Odievre M, Di Rocco M, Scherer G
Abstract excerpt
Tyrosinemia type II (Richner-Hanhart syndrome, RHS) is a disease 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; L-tyr...
Topics
- Adolescent
- Alleles
- Amino Acid Metabolism, Inborn Errors
- Base Sequence
- Child
- Child, Preschool
- Cloning, Molecular
- Exons
- Female
- Humans
- Introns
- Male
- Molecular Sequence Data