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A novel SLC5A2 heterozygous variant in a family with familial renal glucosuria

Familial renal glucosuria (FRG) is characterized by persistent glucosuria despite normal blood glucose levels in the absence of overt tubular dysfunction. SGLT2 is a sodium-glucose cotransporter expressed in the proximal tubule; loss-of-function variants in SLC5A2 are the primary cause of FRG. Heter...

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Detalles Bibliográficos
Autores principales:	Hatano, Maho, Udagawa, Tomohiro, Kanamori, Toru, Sutani, Akito, Mori, Takayasu, Sohara, Eisei, Uchida, Shinichi, Morio, Tomohiro, Nishioka, Masato
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2022
Materias:	Data Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9712647/ https://www.ncbi.nlm.nih.gov/pubmed/36450716 http://dx.doi.org/10.1038/s41439-022-00221-w

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