Article
[Clinical and genetic characteristics of Gitelman syndrome in 5 pedigrees].
Zhonghua nei ke za zhi - 1 Feb 2017
Shi R R, Li C C, Fang L, Xu J, Guan Q B, Zhou X L, Guo J, Han W X, Chen Q, Feng L, Zhao J J, Xu C
Abstract excerpt
Objective: To investigate the clinical and genetic characteristics of 5 pedigrees of Gitelman syndrome (GS), and summarize its advances in genetics, diagnosis and management. Methods: Five families with GS were identified and total genome DNA were extracted from the peripheral blood of all the family members. The exons and their flanking introns of SLC12A3 gene were amplified by PCR and screened for mutation...
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