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Genetic Features of Chinese Patients with Gitelman Syndrome:

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Presentation on theme: "Genetic Features of Chinese Patients with Gitelman Syndrome:"— Presentation transcript:

1 Genetic Features of Chinese Patients with Gitelman Syndrome:
Sixteen Novel SLC12A3 Mutations Identified in a New Cohort Ma et al. Am J Nephrol 2016;44: (DOI: / ) Table 1. Demographic and biochemical data in 54 patients with GS

2 Genetic Features of Chinese Patients with Gitelman Syndrome:
Sixteen Novel SLC12A3 Mutations Identified in a New Cohort Ma et al. Am J Nephrol 2016;44: (DOI: / ) Table 2. Novel mutations identified in the SLC12A3 gene

3 Genetic Features of Chinese Patients with Gitelman Syndrome:
Sixteen Novel SLC12A3 Mutations Identified in a New Cohort Ma et al. Am J Nephrol 2016;44: (DOI: / ) Table 3. In-silico prediction of novel variants in splicing junctions

4 Genetic Features of Chinese Patients with Gitelman Syndrome:
Sixteen Novel SLC12A3 Mutations Identified in a New Cohort Ma et al. Am J Nephrol 2016;44: (DOI: / ) Fig. 1. Sequencing results of novel and complex SLC12A3 mutations identified in this study. A Seven novel mutations identified in SLC12A3 gene; B c.486_490delinsA mutation: wild-type (a), heterozygous (b) and confirmation by T-A clone (c). C c.965-1_976delinsACCCAAATTTT mutation: wild-type (a), homozygous (b) and heterozygous (c).

5 Genetic Features of Chinese Patients with Gitelman Syndrome:
Sixteen Novel SLC12A3 Mutations Identified in a New Cohort Ma et al. Am J Nephrol 2016;44: (DOI: / ) Fig. 2. Schematic diagram of the NCC and localization of novel missense mutations.


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