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

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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Bibliographic Details
Main Authors: Yu Toyoda, Sung Kweon Cho, Velibor Tasic, Kateřina Pavelcová, Jana Bohatá, Hiroshi Suzuki, Victor A. David, Jaeho Yoon, Anna Pallaiova, Jana Šaligová, Darryl Nousome, Raul Cachau, Cheryl A. Winkler, Tappei Takada, Blanka Stibůrková
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-01-01
Series:Frontiers in Genetics
Subjects:
genetic disorder
renal urate handling
RHUC
splicing variant
urate
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.1048330/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2022.1048330/full

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