Functional Characterization of Clinically-Relevant Rare Variants in <i>ABCG2</i> Identified in a Gout and Hyperuricemia Cohort

Functional Characterization of Clinically-Relevant Rare Variants in <i>ABCG2</i> Identified in a Gout and Hyperuricemia Cohort

ATP-binding cassette subfamily G member 2 (ABCG2) is a physiologically important urate transporter. Accumulating evidence demonstrates that congenital dysfunction of ABCG2 is an important genetic risk factor in gout and hyperuricemia; recent studies suggest the clinical significance of both common a...

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Bibliographic Details
Main Authors: Yu Toyoda, Andrea Mančíková, Vladimír Krylov, Keito Morimoto, Kateřina Pavelcová, Jana Bohatá, Karel Pavelka, Markéta Pavlíková, Hiroshi Suzuki, Hirotaka Matsuo, Tappei Takada, Blanka Stiburkova
Format: Article
Language:English
Published: MDPI AG 2019-04-01
Series:Cells
Subjects:
ABCG2/BCRP
common disease
European cohort
exon sequence
functional study
gout susceptibility
heritability of serum uric acid
multiple rare variant
urate transporter
WGA
Online Access:https://www.mdpi.com/2073-4409/8/4/363

Internet

https://www.mdpi.com/2073-4409/8/4/363

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