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A novel mutation of SLC12A3 gene causing Gitelman syndrome

A 48-year-old patient with a history of diabetes mellitus, presented to a surgical ward with abdominal pain. She was found to have hypokalemia. Her younger sister had passed away due to sudden cardiac death at the age of 25 years. Further evaluation revealed an elevated trans-tubular potassium gradi...

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Detalles Bibliográficos
Autores principales:	De Silva, Neomal, Pathmanathan, Sivatharshya, Sumanatilleke, Manilka, Dematapitiya, Chinthana, Dissanayake, Preethi, Wijenayake, Umesha, Subasinghe, Vindya, Dissanayake, Vajira
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	SAGE Publications 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9178994/ https://www.ncbi.nlm.nih.gov/pubmed/35693921 http://dx.doi.org/10.1177/2050313X221102294

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