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Identification of two novel mutations in adenine phosphoribosyltransferase gene in patients with 2,8-dihydroxyadenine urolithiasis |
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| Authors: | Taniguchi Atsuo Tsuchida Sanae Kuno Shin-Ichi Mita Masayuki Machida Tastuya Ioritani Naomasa Terai Chihiro Yamanaka Hisashi Kamatani Naoyuki |
| Affiliation: | Institute of Rheumatology, Tokyo Women's Medical University, Shinjuku-ku, Tokyo, Japan. |
| Abstract: | Five mutations in the adenine phosphoribosyltransferase (APRT) gene have been described in Japanese patients with APRT deficiency. We investigated the APRT gene from three patients with APRT deficiency and two novel mutations, G133D and V84M, were determined. |
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