A recurrent deletion in the SLC5A2 gene including the intron 7 branch site responsible for familial renal glucosuria

Familial renal glycosuria (FRG) is caused by mutations in the SLC5A2 gene, which codes for Na(+)-glucose co-transporters 2 (SGLT2). The aim of this study was to analyze and identify the mutations in 16 patients from 8 families with FRG. All coding regions, including intron-exon boundaries, were anal...

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Detalles Bibliográficos
Autores principales: Zhao, Xiangzhong, Cui, Li, Lang, Yanhua, liu, Ting, Lu, Jingru, Wang, Cui, Tuffery-Giraud, Sylvie, Bottillo, Irene, Wang, Xinsheng, Shao, Leping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5036194/
https://www.ncbi.nlm.nih.gov/pubmed/27666404
http://dx.doi.org/10.1038/srep33920

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