Age and origin of the G774A mutation in SLC22A12 causing renal hypouricemia in Japanese
about
Renal transport of uric acid: evolving concepts and uncertaintiesOrigin of the PSEN1 E280A mutation causing early-onset Alzheimer's diseaseHomozygous SLC2A9 mutations cause severe renal hypouricemia.Prevalence and complications of hypouricemia in a general population: A large-scale cross-sectional study in JapanSerum uric acid distribution according to SLC22A12 W258X genotype in a cross-sectional study of a general Japanese population.Uric acid transport and diseaseGenetic polymorphism of the human organic solute carrier protein 1 (hOSCP1) gene in Japanese patients with non-viral liver carcinoma.Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis.Genetic influence on variation in serum uric acid in American Indians: the strong heart family study.PharmGKB summary: uric acid-lowering drugs pathway, pharmacodynamics.Rare case of nephrocalcinosis in the distal tubules caused by hereditary renal hypouricaemia 3 months after kidney transplantation.Lesinurad: A significant advancement or just another addition to existing therapies of gout?Urat1-Uox double knockout mice are experimental animal models of renal hypouricemia and exercise-induced acute kidney injury.What lies behind serum urate concentration? Insights from genetic and genomic studies.A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia.High frequency of SLC22A12 variants causing renal hypouricemia 1 in the Czech and Slovak Roma population; simple and rapid detection method by allele-specific polymerase chain reaction.Defective SLC22A12 does not exchange extracellular urate for cytosolic LACTIndividualized treatment strategies for hyperuricemia informed by a semi-mechanistic exposure-response model of uric acid dynamics.Functional analysis of novel allelic variants in URAT1 and GLUT9 causing renal hypouricemia type 1 and 2.Long-term follow-up study for a patient with Floating-Harbor syndrome due to a hotspot SRCAP mutation.Physiology of Hyperuricemia and Urate-Lowering Treatments.Renal hypouricemia caused by novel compound heterozygous mutations in the SLC22A12 gene: a case report with literature review
P2860
Q26829446-CE82D60A-27EC-4492-A20A-9DF83766EDAAQ28302044-54AD361A-BD21-463A-AF54-54E839379E07Q33562215-3AB4CECE-E534-4645-AEAB-C7070F37E61CQ33610981-D670DFC0-E320-4940-BE3F-CBC434798AF4Q33834827-A370D003-9E08-4C76-9A32-6215EFE3F339Q33882958-B8B13ED4-7E17-49BB-8B30-D5D157357896Q34878913-828CCBB4-E7B7-4576-AF97-2CBF32B764FDQ37186066-4B6792DE-82E5-4E73-AF00-A77654D11612Q37442711-7D83B7B2-1F4E-43B8-BF3D-DEE80BB82499Q38219092-7297EDB6-1B0C-4233-B44C-7A7C3B4EB85BQ38772175-12417FBA-36C0-4495-98BF-1A7AB047B958Q39120827-60423C08-51BC-4446-885F-7B6737D86322Q39139671-AA0BA826-6D64-4C79-A2CA-BD55000E5CA7Q42284423-15E83C90-B38C-48C7-BE40-83C3106B2D2EQ44321442-17DDB231-AC57-45EE-B874-FCB5E5B9A1A6Q48037092-1D20D5FD-6969-4588-A061-9A98E11450D8Q50289004-1495101D-B645-45FA-9708-2CAAB7F5BB70Q51746631-23AFFD0E-86CC-4F03-9963-F8514F1658ABQ52907065-9C424962-F5D2-40A2-B5B3-3A0BA95FD03BQ54388295-61331C6F-B2F3-42FE-A3C2-2198FE75977CQ55163806-C8FDF285-179A-4FD2-B28F-5CDF1BD7DAA1Q58791430-968D477F-2E15-45ED-A4EF-E8F33CAEF88A
P2860
Age and origin of the G774A mutation in SLC22A12 causing renal hypouricemia in Japanese
description
2008 nî lūn-bûn
@nan
2008 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Age and origin of the G774A mutation in SLC22A12 causing renal hypouricemia in Japanese
@ast
Age and origin of the G774A mutation in SLC22A12 causing renal hypouricemia in Japanese
@en
Age and origin of the G774A mutation in SLC22A12 causing renal hypouricemia in Japanese
@nl
type
label
Age and origin of the G774A mutation in SLC22A12 causing renal hypouricemia in Japanese
@ast
Age and origin of the G774A mutation in SLC22A12 causing renal hypouricemia in Japanese
@en
Age and origin of the G774A mutation in SLC22A12 causing renal hypouricemia in Japanese
@nl
prefLabel
Age and origin of the G774A mutation in SLC22A12 causing renal hypouricemia in Japanese
@ast
Age and origin of the G774A mutation in SLC22A12 causing renal hypouricemia in Japanese
@en
Age and origin of the G774A mutation in SLC22A12 causing renal hypouricemia in Japanese
@nl
P2093
P1433
P1476
Age and origin of the G774A mutation in SLC22A12 causing renal hypouricemia in Japanese
@en
P2093
I Hisatome
M Hosoyamada
N Kamatani
S Kamitsuji
T Shibasaki
P304
P356
10.1111/J.1399-0004.2008.01021.X
P407
P577
2008-09-01T00:00:00Z