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

Autor: Inokuchi, Taku, Moriwaki, Yuji, Takahashi, Sumio, Tsutsumi, Zenta, Ka, Tuneyoshi, Yamamoto, Asako, Cheng, Jidong, Hashimoto-Tamaoki, Tomoko, Hada, Toshikazu, Yamamoto, Tetsuya *
Zdroj: In Metabolism November 2004 53(11):1500-1502
Databáze: ScienceDirect