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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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| Pubblicato in: | Electrolyte Blood Press |
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| Autori principali: | , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
The Korean Society of Electrolyte Metabolism
2016
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4949203/ https://ncbi.nlm.nih.gov/pubmed/27453715 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5049/EBP.2016.14.1.16 |
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