The W258X mutation in SLC22A12 is the predominant cause of Japanese renal hypouricemia.
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Clinical and functional characterization of URAT1 variantsHomozygous SLC2A9 mutations cause severe renal hypouricemia.Xenobiotic, bile acid, and cholesterol transporters: function and regulation.Serum uric acid distribution according to SLC22A12 W258X genotype in a cross-sectional study of a general Japanese population.Critical Roles of Two Hydrophobic Residues within Human Glucose Transporter 9 (hSLC2A9) in Substrate Selectivity and Urate Transport.Analysis of mutations in the urate transporter 1 (URAT1) gene of Japanese patients with hypouricemia in northern Japan and review of the literature.Genetic influence on variation in serum uric acid in American Indians: the strong heart family study.Drug discovery for hyperuricemia.Posterior reversible encephalopathy syndrome with exercise-induced acute kidney injury in renal hypouricemia type 1.The hURAT1 rs559946 polymorphism and the incidence of gout in Han Chinese men.Virtual and in vitro bioassay screening of phytochemical inhibitors from flavonoids and isoflavones against xanthine oxidase and cyclooxygenase-2 for gout treatment.Urate transport across the apical membrane of renal proximal tubules.Absence of SLC22A12 gene mutations in Greek Caucasian patients with primary renal hypouricaemia.A case of acute renal failure after exercise with renal hypouricemia demonstrated compound heterozygous mutations of uric acid transporter 1.Multiple Membrane Transporters and Some Immune Regulatory Genes are Major Genetic Factors to GoutRenal hypouricemia caused by novel compound heterozygous mutations in the SLC22A12 gene: a case report with literature review
P2860
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P2860
The W258X mutation in SLC22A12 is the predominant cause of Japanese renal hypouricemia.
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年学术文章
@wuu
2004年学术文章
@zh
2004年学术文章
@zh-cn
2004年学术文章
@zh-hans
2004年学术文章
@zh-my
2004年学术文章
@zh-sg
2004年學術文章
@yue
2004年學術文章
@zh-hant
name
The W258X mutation in SLC22A12 is the predominant cause of Japanese renal hypouricemia.
@en
The W258X mutation in SLC22A12 is the predominant cause of Japanese renal hypouricemia.
@nl
type
label
The W258X mutation in SLC22A12 is the predominant cause of Japanese renal hypouricemia.
@en
The W258X mutation in SLC22A12 is the predominant cause of Japanese renal hypouricemia.
@nl
prefLabel
The W258X mutation in SLC22A12 is the predominant cause of Japanese renal hypouricemia.
@en
The W258X mutation in SLC22A12 is the predominant cause of Japanese renal hypouricemia.
@nl
P2093
P1433
P1476
The W258X mutation in SLC22A12 is the predominant cause of Japanese renal hypouricemia.
@en
P2093
Atsushi Enomoto
Fusako Komoda
Hitoshi Endou
Isamu Kamimaki
Jun Inatomi
Masahiro Ikeda
Midori Awazu
Takashi Igarashi
Takashi Sekine
Takeshi Matsuyama
P2888
P304
P356
10.1007/S00467-004-1424-1
P50
P577
2004-03-31T00:00:00Z