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

Internet

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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