Case Report
Clinical Characteristics and Gene Mutation Analysis of the Chinese Han Population with Gitelman Syndrome: 3 Case Reports and a Literature Review
Table 2
Gene mutations in the 3 patients.
| | Case | Gene | Exon | Mutation | Zygote | Effects |
| | Case 1 | SCL21A3 | 1 | c.179C > T | Complex heterozygous | p.T60M | | 22 | c.2573T > A | p.L858H | | Case 2 | SCL21A3 | 8 | c.1077C > G | Homozygous | p.N359K | | Case 3 | CLCNKB | 12 | c.1171T > C | Heterozygous | p.W391R | | SCL21A3 | 1 | c.179C > T | Heterozygous | p.T60M |
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