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...
| Main Authors: | , , , , , |
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| Format: | Online |
| Language: | English |
| Published: |
The Korean Society of Electrolyte Metabolism
2016
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4949203/ |