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- W2000202889 abstract "A girl, born to unrelated Spanish parents, presented at 6 months of age with photophobia, keratitis, palmar hyperkeratosis and high plasma tyrosine levels, indicative of tyrosinaemia type II. Analysis of the tyrosine aminotransferase (TAT) gene revealed a paternally inherited frameshift mutation c.1213delCinsAG at codon 405 causing a premature stop codon, and a maternally inherited deletion of 193kb encompassing the complete TAT gene and three neighbouring genes. This is the first complete TAT deletion in tyrosinaemia type II described so far." @default.
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- W2000202889 date "2011-11-01" @default.
- W2000202889 modified "2023-09-26" @default.
- W2000202889 title "A large TAT deletion in a tyrosinaemia type II patient" @default.
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- W2000202889 doi "https://doi.org/10.1016/j.ymgme.2011.05.009" @default.
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