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Characterization of a Compound Heterozygous SLC2A9 Mutation That Causes Hypouricemia

Renal hypouricemia is a rare genetic disorder. Hypouricemia can present as renal stones or exercise-induced acute renal failure, but most cases are asymptomatic. Our previous study showed that two recessive variants of SLC22A12 (p.Trp258*, pArg90His) were identified in 90% of the hypouricemia patien...

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Detalles Bibliográficos
Autores principales:	Yoon, Jaeho, Cachau, Raul, David, Victor A., Thompson, Mary, Jung, Wooram, Jee, Sun-Ha, Daar, Ira O., Winkler, Cheryl A., Cho, Sung-Kweon
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8471325/ https://www.ncbi.nlm.nih.gov/pubmed/34572357 http://dx.doi.org/10.3390/biomedicines9091172

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