Abstracts tagged "uric acid and genetics"

Abstract Number: 1233 • 2019 ACR/ARP Annual Meeting
Identification and Characterization of a Novel Dysfunction Variant p.I242T in ABCG2 Transporter in a Family with Early-onset Hyperuricamia and Gout
Blanka Stiburkova¹, Yu Toyoda ², Katerina Pavelcova ³, Martin Klein ⁴, Tappei Takada ² and Hiroshi Suzuki ², ¹Institute of Rheumatology; Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic, Prague, Czech Republic, ²Department of Pharmacy, The University of Tokyo Hospital, Tokyo, Japan, Tokyo, Japan, ³Institute of Rheumatology; Department of Rheumatology, First Faculty of Medicine, Charles University, Prague, Czech Republic, Prague, Czech Republic, ⁴Institute of Rheumatology, Department of Rheumatology, 1st Faculty of Medicine, Prague, Czech Republic, Prague, Czech Republic
Background/Purpose: ABCG2 is a high-capacity urate transporter gene. Common dysfunctional variants of ABCG2 that result in decreased urate excretion in humans are major causes of…

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