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- W112039962 abstract "An inherited deficiency of hypoxanthine-guanine phosphoribo-syltransferase (HPRT) has been described in two distinct clinical syndromes. A virtually complete deficiency of enzyme activity is associated with patients having the Lesch-Nyhan syndrome (1) while a partial deficiency of enzyme activity leads to hyperuricemia and an early onset of gout (2)." @default.
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- W112039962 date "1984-01-01" @default.
- W112039962 modified "2023-09-27" @default.
- W112039962 title "Hypoxanthine-Guanine Phosphoribosyltransferase in Human Lymphoblastoid Cells: Confirmation of Four Structural Variants and Demonstration of a New Variant (HPRTAnn Arbor)" @default.
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- W112039962 doi "https://doi.org/10.1007/978-1-4757-0390-0_7" @default.
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