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A novel compound heterozygous mutation in SLC5A2 contributes to familial renal glucosuria in a Chinese family, and a review of the relevant literature

Familial renal glucosuria (FRG) is a rare condition that involves isolated glucosuria despite normal blood glucose levels. Mutations in the solute carrier family 5 member 2 (SLC5A2) gene, which encodes sodium-glucose cotransporter 2 (SGLT2), have been reported to be responsible for the disease. Gene...

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Опубликовано в: :Mol Med Rep
Главные авторы: Li, Shentang, Yang, Yeyi, Huang, Lihua, Kong, Min, Yang, Zuocheng
Формат: Artigo
Язык:Inglês
Опубликовано: D.A. Spandidos 2019
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC6472135/
https://ncbi.nlm.nih.gov/pubmed/30942416
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/mmr.2019.10110
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