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...

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Detalles Bibliográficos
Autores principales: Toyoda, Yu, Pavelcová, Kateřina, Bohatá, Jana, Ješina, Pavel, Kubota, Yu, Suzuki, Hiroshi, Takada, Tappei, Stiburkova, Blanka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7920026/
https://www.ncbi.nlm.nih.gov/pubmed/33669292
http://dx.doi.org/10.3390/ijms22041935

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7920026/
https://www.ncbi.nlm.nih.gov/pubmed/33669292
http://dx.doi.org/10.3390/ijms22041935

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