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Identification of a new point mutation in hypoxanthine phosphoribosyl transferase responsible for hyperuricemia in a female patient

✍ Scribed by Taku Inokuchi; Yuji Moriwaki; Sumio Takahashi; Zenta Tsutsumi; Tuneyoshi Ka; Asako Yamamoto; Jidong Cheng; Tomoko Hashimoto-Tamaoki; Toshikazu Hada; Tetsuya Yamamoto


Book ID
116746873
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
76 KB
Volume
53
Category
Article
ISSN
1532-8600

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Lesch-Nyhan syndrome caused by a complete deficiency of hypoxanthine guanine phosphoribosyltransferase (HPRT) is the result of a heterogeneous group of germ line mutations. Identification of each mutant gene provides valuable information as to the type of mutation that occurs spontaneously. We repor