The biochemical and molecular basis of Hypoxanthine-guanine phosphoribosyltransferase deficiency
Hypoxanthine-guanine phosphoribosyltransferase (HPRT) catalyses the first step in purine salvage. A complete deficiency of the enzyme results in the devastating neurological symptoms of the Lesch-Nyhan syndrome. The Lesch-Nyhan syndrome is characterised by purine overproduction leading to, hyperuric...
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| Format: | Doctoral Thesis |
| Language: | English |
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University of Cape Town
2018
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| Online Access: | http://hdl.handle.net/11427/26969 |