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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...

詳細記述

保存先:
書誌詳細
出版年:Mol Med Rep
主要な著者: Li, Shentang, Yang, Yeyi, Huang, Lihua, Kong, Min, Yang, Zuocheng
フォーマット: Artigo
言語:Inglês
出版事項: D.A. Spandidos 2019
主題:
オンライン・アクセス: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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