Identification of a dysfunctional splicing mutation in the SLC22A12/URAT1 gene causing renal hypouricaemia type 1: a report on two families.
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.
Kawamura Y, et al. Among authors: takada t.
Rheumatology (Oxford). 2020 Dec 1;59(12):3988-3990. doi: 10.1093/rheumatology/keaa461.
Rheumatology (Oxford). 2020.
PMID: 33011794
Free PMC article.
No abstract available.