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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...
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| 出版年: | World J Nephrol |
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| 主要な著者: | , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Baishideng Publishing Group Inc
2016
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5099602/ https://ncbi.nlm.nih.gov/pubmed/27872838 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5527/wjn.v5.i6.551 |
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