The enzyme hypoxanthine phosphoribosyltransferase (HPRT), expressed at low levels in non-neuronal tissues and higher levels in the brain, catalyzes the cellular salvage of the purine bases hypoxanthine and guanine. A complete deficiency of HPRT results in Lesch-Nyhan syndrome (LNS). LNS is character
The Lesch-Nyhan syndrome: clinical, molecular and genetic aspects
β Scribed by J. Timothy Stout; C. Thomas Caskey
- Book ID
- 113288611
- Publisher
- Elsevier Science
- Year
- 1988
- Tongue
- English
- Weight
- 530 KB
- Volume
- 4
- Category
- Article
- ISSN
- 0168-9525
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De$ciency of the enzyme hypoxanthineguanine phosphoribosyltransferase (HPRT) in humans leads to the neurological disorder, Lesch-Nyhan syndrome. HPRTcDNA sequences have been used to demonstrate a heterogeneous group of mutations causing this disorder, one of which is clearly a new mutation. HPRT ex
## Communicated by Uta Fruncke Heteroduplex detection by hydrolink gel electrophoresis was performed to screen for small mutations in 12 Lesch-Nyhan syndrome families with characterised molecular pathology which included nine point mutations, two small deletions, and a 1-bp insertion. This modifie