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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-tyrosine:2-oxoglutarate aminotransferase, EC 2.6.1.5), a 454-amino acid protein encoded by a gene with 12 exons. To...

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Identifiers

PMID: 1357662
DOI: 10.1073/pnas.89.19.9297
PMCID: PMC50113

Genes

TAT

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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