1996•Nature GeneticsRequires access

Gitelman's variant of Barter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na–Cl cotransporter

David B. Simon, Carol J. Nelson-Williams, MARGARET JOHNSON BIA, David H. Ellison, Fiona E. Karet, Antonio Morey Molina, Ivar Vaara, Fujihiko Iwata, Howard M. Cushner, Marianne I. Koolen, Francisco Javier Gainza Ríos, Hillel J. Gitelman, Richard P. Lifton

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Key concepts: Hypocalciuria, Gitelman syndrome, Bartter syndrome, Endocrinology, Metabolic alkalosis, Internal medicine, Hypokalemia, Hypomagnesemia