We have determined the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT; HPRT1) deficiency in eight Lesch-Nyhan patients and in five partially HPRT deficient patients with mild to severe neurologic symptoms. Eight of these thirteen mutations have not been previously described.
Hypoxanthine-guanine phosphoribosyltransferase activity of blood and muscle in duchenne dystrophy
β Scribed by Dr. Joseph S. Neerunjun; Dr. Jennifer Allsop; Dr. Victor Dubowitz
- Publisher
- John Wiley and Sons
- Year
- 1979
- Tongue
- English
- Weight
- 394 KB
- Volume
- 2
- Category
- Article
- ISSN
- 0148-639X
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