A novel homozygous mutation in the solute carrier family 12 member 3 gene in a Chinese family with Gitelman syndrome

Loss of function of mutated solute carrier family 12 member 3 (SLC12A3) gene is the most frequent etiology for Gitelman syndrome (GS), which is mainly manifested by hypokalemia, hypomagnesemia and hypocalciuria. We report the genetic characteristics of one suspicious Chinese GS pedigree by gene sequ...

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Detalles Bibliográficos
Autores principales: Zhang, Y., Zhang, F., Chen, D., Lü, Q., Tang, L., Yang, C., Lei, M., Tong, N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Associação Brasileira de Divulgação Científica 2016
Materias:
Clinical Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5089230/
https://www.ncbi.nlm.nih.gov/pubmed/27783806
http://dx.doi.org/10.1590/1414-431X20165261

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5089230/
https://www.ncbi.nlm.nih.gov/pubmed/27783806
http://dx.doi.org/10.1590/1414-431X20165261

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