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Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II.

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-tyrosi...

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Autors principals: Natt, E, Kida, K, Odievre, M, Di Rocco, M, Scherer, G
Format: Artigo
Idioma:Inglês
Publicat: 1992
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC50113/
https://ncbi.nlm.nih.gov/pubmed/1357662
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