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

Research output: Contribution to journal › Letter › peer-review

Original language	English
Pages (from-to)	3988-3990
Number of pages	3
Journal	Rheumatology (United Kingdom)
Volume	59
Issue number	12
DOIs	https://doi.org/10.1093/rheumatology/keaa461
Publication status	Published - 2020 Dec 1
Externally published	Yes

ASJC Scopus subject areas

Rheumatology
Pharmacology (medical)

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

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AU - Kawamura, Yusuke

AU - Toyoda, Yu

AU - Ohnishi, Takuma

AU - Hisatomi, Ryutaro

AU - Higashino, Toshihide

AU - Nakayama, Akiyoshi

AU - Shimizu, Seiko

AU - Yanagi, Masato

AU - Kamimaki, Isamu

AU - Fujimaru, Rika

AU - Suzuki, Hiroshi

AU - Shinomiya, Nariyoshi

AU - Takada, Tappei

AU - Matsuo, Hirotaka

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

ASJC Scopus subject areas

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