Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis.
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Metabolic syndrome, alcohol consumption and genetic factors are associated with serum uric acid concentrationComplex analysis of urate transporters SLC2A9, SLC22A12 and functional characterization of non-synonymous allelic variants of GLUT9 in the Czech population: no evidence of effect on hyperuricemia and gout.Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity.Recurrent exercise-induced acute kidney injury by idiopathic renal hypouricemia with a novel mutation in the SLC2A9 gene and literature reviewTranscriptome-based reconstructions from the murine knockout suggest involvement of the urate transporter, URAT1 (slc22a12), in novel metabolic pathwaysPrevalence and possible causes of hypouricemia at a tertiary care hospital.Urate Levels Predict Survival in ALS: Analysis of the Expanded PRO-ACT Database.Prevalence of URAT1 allelic variants in the Roma population.Uric acid, an important screening tool to detect inborn errors of metabolism: a case series.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.Modern diagnostic approach to hereditary xanthinuria.Functional analysis of novel allelic variants in URAT1 and GLUT9 causing renal hypouricemia type 1 and 2.A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia.Multiple Membrane Transporters and Some Immune Regulatory Genes are Major Genetic Factors to GoutLarge-scale whole-exome sequencing association studies identify rare functional variants influencing serum urate levelsRenal hypouricemia caused by novel compound heterozygous mutations in the SLC22A12 gene: a case report with literature review
P2860
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P2860
Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 06 February 2013
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
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vědecký článek
@cs
name
Novel allelic variants and evi ...... etics and functional analysis.
@en
Novel allelic variants and evi ...... etics and functional analysis.
@nl
type
label
Novel allelic variants and evi ...... etics and functional analysis.
@en
Novel allelic variants and evi ...... etics and functional analysis.
@nl
prefLabel
Novel allelic variants and evi ...... etics and functional analysis.
@en
Novel allelic variants and evi ...... etics and functional analysis.
@nl
P2093
P2860
P50
P356
P1476
Novel allelic variants and evi ...... etics and functional analysis.
@en
P2093
Helena Hulkova
Helena Jahnova
Kimiyoshi Ichida
Lenka Kryspinova
Makiko Nakamura
P2860
P2888
P304
P356
10.1038/EJHG.2013.3
P577
2013-02-06T00:00:00Z