Three Novel Homozygous Mutations of the SLC12A3 Gene in a Gitelman Syndrome Patient

AIM: Gitelman syndrome (GS) is an autosomal recessive disorder characterized by hypokalemic metabolic alkalosis. In this study, we investigated the clinical presentation and sequenced 26 exons of SLC12A3 gene in a patient with a clinical suspicion of GS. METHODS: Clinical work-up including clinical...

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Detalles Bibliográficos
Autores principales: Zhong, Mei, Zhai, Zhenwei, Zhou, Xing, Sun, Jingxia, Chen, Hui, Lu, Wensheng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2021
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8163730/
https://www.ncbi.nlm.nih.gov/pubmed/34079339
http://dx.doi.org/10.2147/IJGM.S308246

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8163730/
https://www.ncbi.nlm.nih.gov/pubmed/34079339
http://dx.doi.org/10.2147/IJGM.S308246

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