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- URN zum Zitieren dieses Dokuments:
- urn:nbn:de:bvb:355-epub-26694
- DOI zum Zitieren dieses Dokuments:
- 10.5283/epub.2669
Zusammenfassung
Lesch-Nyhan disease is caused by a deficiency of the purine salvage enzyme, hypoxanthine phosphoribosyl transferase (HPRT). The link between HPRT deficiency and the neuropsychiatric symptoms is unknown. In rat B103 neuroblastoma cell membranes and mouse Neuro2a neuroblastoma cell membranes, nucleoside 5'-triphosphatase (NTPase) activity is substantially reduced, whereas in fibroblast membranes ...
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