Molecular and functional analysis of hypoxanthine-guanine phosphoribosyltransferase from Arabidopsis thaliana
β Scribed by Xueying Liu; Weiqiang Qian; Xin Liu; Huanju Qin; Daowen Wang
- Book ID
- 111124844
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 679 KB
- Volume
- 175
- Category
- Article
- ISSN
- 0028-646X
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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.
Five independent mutations in the hypoxanthine guanine phosphoribosyltransferase (HPRT) gene were identified in a partially HPRT deficient patient with gout and in four Lesch-Nyhan patients. Using the polymerase chain reaction (PCR) technique coupled with direct sequencing, the nucleotide sequences