Gitelman syndrome caused by a rare homozygous mutation in the SLC12A3 gene: A case report

Figure 1 Genome sequencing of all exon regions of SLC12A3. A: Integrative Genomics Viewer of the genome sequencing revealed a homozygous mutation in C536T, which caused a Val to Asp substitution; B: The detected mutation is shown and was confirmed by classical Sanger sequencing. NM_000339.2 Solute Carrier Family 12 Member 3 (SLC12A3): chr16:56903671; Exon4; c.536T>A; p.Val179Asp; homozygous mutation.