New SLC12A3 disease causative mutation of Gitelman’s syndrome
Gitelman’s syndrome (GS) is a salt-losing tubulopathy with an autosomal recessive inheritance caused by mutations of SLC12A3, which encodes for the thiazide-sensitive NaCl cotransporter. In this study we report a new mutation of SLC12A3 found in two brothers affected by GS. Hypokalemia, hypocalciuri...
| Main Authors: | , , , , , , , , |
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| Format: | Online |
| Language: | English |
| Published: |
Baishideng Publishing Group Inc
2016
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5099602/ |