Identification of a dysfunctional splicing mutation in the SLC22A12/URAT1 gene causing renal hypouricaemia type 1: A report on two families

Yusuke Kawamura; Yu Toyoda; Takuma Ohnishi; Ryutaro Hisatomi; Toshihide Higashino; Akiyoshi Nakayama; Seiko Shimizu; Masato Yanagi; Isamu Kamimaki; Rika Fujimaru; Hiroshi Suzuki; Nariyoshi Shinomiya; Tappei Takada; Hirotaka Matsuo

doi:10.1093/rheumatology/keaa461

Identification of a dysfunctional splicing mutation in the SLC22A12/URAT1 gene causing renal hypouricaemia type 1: A report on two families

Yusuke Kawamura, Yu Toyoda, Takuma Ohnishi, Ryutaro Hisatomi, Toshihide Higashino, Akiyoshi Nakayama, Seiko Shimizu, Masato Yanagi, Isamu Kamimaki, Rika Fujimaru, Hiroshi Suzuki, Nariyoshi Shinomiya, Tappei Takada, Hirotaka Matsuo

研究成果: Letter › 査読

5 被引用数 (Scopus)

本文言語	English
ページ（範囲）	3988-3990
ページ数	3
ジャーナル	Rheumatology (United Kingdom)
巻	59
号	12
DOI	https://doi.org/10.1093/rheumatology/keaa461
出版ステータス	Published - 2020 12月 1
外部発表	はい

ASJC Scopus subject areas

リウマチ学
薬理学（医学）

文献へのアクセス

10.1093/rheumatology/keaa461

他のファイルとリンク

引用スタイル

Kawamura, Y., Toyoda, Y., Ohnishi, T., Hisatomi, R., Higashino, T., Nakayama, A., Shimizu, S., Yanagi, M., Kamimaki, I., Fujimaru, R., Suzuki, H., Shinomiya, N., Takada, T., & Matsuo, H. (2020). Identification of a dysfunctional splicing mutation in the SLC22A12/URAT1 gene causing renal hypouricaemia type 1: A report on two families. Rheumatology (United Kingdom), 59(12), 3988-3990. https://doi.org/10.1093/rheumatology/keaa461

Kawamura, Y, Toyoda, Y, Ohnishi, T, Hisatomi, R, Higashino, T, Nakayama, A, Shimizu, S, Yanagi, M, Kamimaki, I, Fujimaru, R, Suzuki, H, Shinomiya, N, Takada, T & Matsuo, H 2020, 'Identification of a dysfunctional splicing mutation in the SLC22A12/URAT1 gene causing renal hypouricaemia type 1: A report on two families', Rheumatology (United Kingdom), vol. 59, no. 12, pp. 3988-3990. https://doi.org/10.1093/rheumatology/keaa461

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