Article
Mutations in human urate transporter 1 gene in presecretory reabsorption defect type of familial renal hypouricemia.
The Journal of clinical endocrinology and metabolism - 1 Apr 2005
Wakida Naoki, Tuyen Do Gia, Adachi Masataka, Miyoshi Taku, Nonoguchi Hiroshi, Oka Toshiaki, Ueda Osamu, Tazawa Masahiro, Kurihara Satoshi, Yoneta Yoshitaka, Shimada Hajime, Oda Takashi, Kikuchi Yuichi, Matsuo Hirotaka, Hosoyamada Makoto, Endou Hitoshi, Otagiri Masaki, Tomita Kimio, Kitamura Kenichiro
Abstract excerpt
To date, 11 loss of function mutations in the human urate transporter 1 (hURAT1) gene have been identified in subjects with idiopathic renal hypouricemia. In the present studies we investigated the clinical features and the mutations in the hURAT1 gene in seven families with presecretory reabsorp...
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