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Mild Lesch–Nyhan Disease in a Boy with a Null Mutation in HPRT1: An Exception to the Known Genotype–Phenotype Correlation
Hypoxanthine–guanine phosphoribosyltransferase (HPRT) deficiency results in a continuous spectrum of clinical phenotypes though all include overproduction of uric acid with hyperuricaemia, urate nephrolithiasis and gout. HPRT1 mutations that result in very low or no HPRT enzyme activities are genera...
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| Veröffentlicht in: | JIMD Rep |
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| Hauptverfasser: | , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Springer Berlin Heidelberg
2014
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4361920/ https://ncbi.nlm.nih.gov/pubmed/25366392 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2014_368 |
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