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Functional Characterization of Clinically-Relevant Rare Variants in ABCG2 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...
Autores principales: | Toyoda, Yu, Mančíková, Andrea, Krylov, Vladimír, Morimoto, Keito, Pavelcová, Kateřina, Bohatá, Jana, Pavelka, Karel, Pavlíková, Markéta, Suzuki, Hiroshi, Matsuo, Hirotaka, Takada, Tappei, Stiburkova, Blanka |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6523779/ https://www.ncbi.nlm.nih.gov/pubmed/31003562 http://dx.doi.org/10.3390/cells8040363 |
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