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Identification of Two Dysfunctional Variants in the ABCG2 Urate Transporter Associated with Pediatric-Onset of Familial Hyperuricemia and Early-Onset Gout
The ABCG2 gene is a well-established hyperuricemia/gout risk locus encoding a urate transporter that plays a crucial role in renal and intestinal urate excretion. Hitherto, p.Q141K—a common variant of ABCG2 exhibiting approximately one half the cellular function compared to the wild-type—has been re...
Enregistré dans:
| Publié dans: | Int J Mol Sci |
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| Auteurs principaux: | , , , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
MDPI
2021
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7920026/ https://ncbi.nlm.nih.gov/pubmed/33669292 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms22041935 |
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