Fig. 2From: Gitelman syndrome with normocalciuria – a case reportIdentification of the SLC12A3 mutations using Sanger sequencing. *Missense mutation c.1247G > C leads to p.Cys416Ser (A), mutation c.2186G > T leads to p.Gly729Val (B). The reference sequences were: NM_000339.2 and NP_000330.2Back to article page