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 have previously described one deletion and six different point mutations in four RHS patients. We have now analyzed the...
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