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Gitelman syndrome (GS) is an autosomal recessive disease primarily caused by mutations in the SLC12A3 gene, characterized by the hypokalaemic metabolic alkalosis with hypomagnesemia. Here, we investigated the mutation of SLC12A3 gene in a Chinese pedigree with GS and analyzed the clinical manifestations. We present the case of a 17-year-old boy diagnosed of GS due to persistent hypokalaemia. To confirm the diagnosis of the proband and to screen for the SLC12A3 gene mutation in this pedigree, we performed SLC12A3 gene mutation tests in th
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