| 1 | GHPR, HPRT1, HPRT1D |
| Normal HPRT coding region in complete and partial HPRT deficiency. | |
| Garc’a MG, Torres RJ, Prior C, Puig JG. | |
| Mol Genet Metab 94(2):167-72. Epub 2008 Mar 7. 2008 | |
| 2 | HPRT1, GHPR |
| HPRTSardinia: a new point mutation causing HPRT deficiency without Lesch-Nyhan disease. | |
| Cossu A, Orr¯ S, Jacomelli G, Carcassi C, Contu L, Sestini S, Corradi MR, Pompucci G, Carcassi A, Micheli V. | |
| Biochim Biophys Acta 1762(1):29-33. Epub 2005 Apr 13. 2006 | |
| 3 | GHPR, HPRT1 |
| Kelley-Seegmiller syndrome due to a unique variant of hypoxanthine-guanine phosphoribosyltransferase: reduced affinity for 5-phosphoribosyl-1-pyrophosphate manifested only at low, physiological substrate concentrations. | |
| Zoref-Shani E, Feinstein S, Frishberg Y, Bromberg Y, Sperling O. | |
| Biochim Biophys Acta 1500(2):197-203. 2000 | |