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.
The molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in French families; report of two novel mutations
✍ Scribed by Guang Liu; Bernard Aral; Marie-Thérèse Zabot; Pierre Kamoun; Irène Ceballos-Picot
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 259 KB
- Volume
- 11
- Category
- Article
- ISSN
- 1059-7794
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