The spectrum of HPRT deficiency: an update.
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Department of Pediatrics, University of California, San Diego, La Jolla 92093.
Nyhan
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D002478:Cells, Cultured; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency* / Q000235:genetics; D007926:Lesch-Nyhan Syndrome / Q000175:diagnosis / Q000235:genetics; D010641:Phenotype
D007041:Hypoxanthine Phosphoribosyltransferase