| Entry |
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| Name |
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| Gene |
HPRT1 hypoxanthine phosphoribosyltransferase 1 [KO: K00760]
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|---|
| Organism |
hsa_var Human gene variants (Homo sapiens)
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| Variation |
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| Network |
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| Disease |
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| Reference |
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| Authors |
Torres RJ, Puig JG |
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| Title |
Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome. |
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| Journal |
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|---|
| Reference |
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|---|
| Authors |
Davidson BL, Pashmforoush M, Kelley WN, Palella TD |
|---|
| Title |
Human hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular defect in a patient with gout (HPRTAshville). |
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| Journal |
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| LinkDB |
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