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Details on Person A germ line mutation within the coding sequence for the putative 5-phosphoribosyl-1-pyrophosphate binding site of hypoxanthine-guanine phosphoribosyltransferase (HPRT) in a Lesch-Nyhan patient: missense mutations within a functionally important region probably cause disease
| Class:Id | LiteratureReference:9734294 |
|---|---|
| _displayName | A germ line mutation within the coding sequence for the putative 5-phosphoribosyl-1-pyrophosphate binding site of hypoxanthine-guanine phosphoribosyltransferase (HPRT) in a Lesch-Nyhan patient: missense mutations within a functionally important region probably cause disease |
| _timestamp | 2021-06-16 19:54:44 |
| author | [Person:9734152] Fujimori, Shin [Person:9734277] Tagaya, Tetsuo [Person:5625223] Kamatani, Naoyuki [Person:9734290] Akaoka, Ieo |
| created | [InstanceEdit:9734263] D'Eustachio, Peter, 2021-06-16 |
| journal | Hum Genet |
| modified | [InstanceEdit:9734306] D'Eustachio, Peter, 2021-06-16 |
| pages | 385-8 |
| pubMedIdentifier | 1282899 |
| title | A germ line mutation within the coding sequence for the putative 5-phosphoribosyl-1-pyrophosphate binding site of hypoxanthine-guanine phosphoribosyltransferase (HPRT) in a Lesch-Nyhan patient: missense mutations within a functionally important region probably cause disease |
| volume | 90 |
| year | 1992 |
| (literatureReference) | [EntityWithAccessionedSequence:9734264] HPRT1 G140D [cytosol] [Homo sapiens] [FailedReaction:9734274] Defective HPRT1 does not convert guanine or hypoxanthine to GMP or IMP [Homo sapiens] |
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No pathways have been reviewed or authored by A germ line mutation within the coding sequence for the putative 5-phosphoribosyl-1-pyrophosphate binding site of hypoxanthine-guanine phosphoribosyltransferase (HPRT) in a Lesch-Nyhan patient: missense mutations within a functionally important region probably cause disease (9734294)
