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 journalLetterpeer-review

6 Citations (Scopus)
Original languageEnglish
Pages (from-to)3988-3990
Number of pages3
JournalRheumatology (United Kingdom)
Volume59
Issue number12
DOIs
Publication statusPublished - 2020 Dec 1
Externally publishedYes

ASJC Scopus subject areas

  • Rheumatology
  • Pharmacology (medical)

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