The Lesch-Nyhan syndrome is a severe X chromosome-linked human disease caused by a virtual absence of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity. A partial deficiency in the activity of this enzyme can result in gouty arthritis. To determine the genetic basis for reduction or los
The point mutation of hypoxanthine-guanine phosphoribosyltransferase (HPRTEdinburgh) and detection by allele-specific polymerase chain reaction
β Scribed by Therese Lightfoot; Rahul Joshi; George Nuki; Floyd F. Snyder
- Publisher
- Springer
- Year
- 1992
- Tongue
- English
- Weight
- 372 KB
- Volume
- 88
- Category
- Article
- ISSN
- 0340-6717
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