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- W2018891981 abstract "We have identified a mutation in the gene coding for the enzyme hypoxanthine phosphoribosyltransferase in a pediatric patient with hyperuricemia and nephrolithiasis. The mutation is a nucleotide substitution causing an amino acid substitution in the hypoxanthine phosphoribosyltransferase protein. In this patient, fibroblasts but not lymphocytes showed resistance to 6-thioguanine, and reduced enzyme activity was detected in lymphocytes. These results are consistent with the intermediary phenotype associated with partial hypoxanthine phosphoribosyltransferase enzyme deficiency. Altogether, six males in this family suffered from hyperuricemic symptoms, and small differences in phenotype were seen." @default.
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- W2018891981 date "1993-10-01" @default.
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- W2018891981 title "A missense mutation in the hypoxanthine phosphoribosyltransferase gene in a pediatric patient with hyperuricemia" @default.
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- W2018891981 doi "https://doi.org/10.1111/j.1651-2227.1993.tb12553.x" @default.
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