A Pedigree with c.179 Cytosine to Threonine Missense Mutation of SLC12A3 Gene Presenting Gitelman's Syndrome

A 42-year-old man came to the hospital presenting chest discomfort and general weakness. He had come to the hospital with the same symptoms 3 months ago and 12 years prior. His laboratory test showed hypokalemia, hypomagnesemia and hypocalciuria. The arterial blood gas analysis showed hypochloremic...

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Detalles Bibliográficos
Autores principales: Kim, Yaerim, Kang, Seong Sik, Park, Woo Yeong, Jin, Kyubok, Kim, Dae-Kwang, Han, Seungyeup
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society of Electrolyte Metabolism 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4949203/
https://www.ncbi.nlm.nih.gov/pubmed/27453715
http://dx.doi.org/10.5049/EBP.2016.14.1.16

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4949203/
https://www.ncbi.nlm.nih.gov/pubmed/27453715
http://dx.doi.org/10.5049/EBP.2016.14.1.16

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