Novel Mutations in the Human HPRT Gene
- 1 June 2011
- journal article
- research article
- Published by Taylor & Francis in Nucleosides, Nucleotides and Nucleic Acids
- Vol. 30 (6), 440-445
- https://doi.org/10.1080/15257770.2011.588187
Abstract
Inherited mutation of a purine salvage enzyme, hypoxanthine guanine phosphoribosyltransferase (HPRT), gives rise to Lesch-Nyhan Syndrome (LNS) or HPRT-related gout. Here, we report five novel independent mutations in the coding region of the HPRT gene from five unrelated male patients manifesting different clinical phenotypes associated with LNS: exon 2: c.133A > G, p.45R > G; c.35A > C, p.12D > A; c.88delG; exon 7: c.530A > T, p.177D > V; and c.318 + 1G > C: IVS3 + 1G > C splice site mutation.Keywords
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