Identification of a dysfunctional exon-skipping splice variant in GLUT9/SLC2A9 causal for renal hypouricemia type 2

Renal hypouricemia (RHUC) is a pathological condition characterized by extremely low serum urate and overexcretion of urate in the kidney; this inheritable disorder is classified into type 1 and type 2 based on causative genes encoding physiologically-important urate transporters, URAT1 and GLUT9, r...

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Detalles Bibliográficos
Autores principales: Toyoda, Yu, Cho, Sung Kweon, Tasic, Velibor, Pavelcová, Kateřina, Bohatá, Jana, Suzuki, Hiroshi, David, Victor A., Yoon, Jaeho, Pallaiova, Anna, Šaligová, Jana, Nousome, Darryl, Cachau, Raul, Winkler, Cheryl A., Takada, Tappei, Stibůrková, Blanka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9887137/
https://www.ncbi.nlm.nih.gov/pubmed/36733941
http://dx.doi.org/10.3389/fgene.2022.1048330

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9887137/
https://www.ncbi.nlm.nih.gov/pubmed/36733941
http://dx.doi.org/10.3389/fgene.2022.1048330

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