Novel Intronic Mutations of the SLC12A3 Gene in Patients with Gitelman Syndrome

AIM: Mutations in the SLC12A3 gene have been reported to cause Gitelman syndrome (GS), characterized by hypokalemic metabolic alkalosis. The aim of this research is to investigate the genetic mutations and clinical features of patients with clinical suspicion of GS. METHODS: Six families were enroll...

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Detalles Bibliográficos
Autores principales: Xun, Zeli, Gao, Pengfei, Du, Yanan, Yan, Xue, Yang, Jingmin, Wang, Zhihua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2023
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10184854/
https://www.ncbi.nlm.nih.gov/pubmed/37197138
http://dx.doi.org/10.2147/IJGM.S408631

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10184854/
https://www.ncbi.nlm.nih.gov/pubmed/37197138
http://dx.doi.org/10.2147/IJGM.S408631

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