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Gitelman syndrome.
Knoers NV, Levtchenko EN. Knoers NV, et al. Orphanet J Rare Dis. 2008 Jul 30;3:22. doi: 10.1186/1750-1172-3-22. Orphanet J Rare Dis. 2008. PMID: 18667063 Free PMC article. Review.
Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain.
Lemmink HH, Knoers NV, Károlyi L, van Dijk H, Niaudet P, Antignac C, Guay-Woodford LM, Goodyer PR, Carel JC, Hermes A, Seyberth HW, Monnens LA, van den Heuvel LP. Lemmink HH, et al. Among authors: knoers nv. Kidney Int. 1998 Sep;54(3):720-30. doi: 10.1046/j.1523-1755.1998.00070.x. Kidney Int. 1998. PMID: 9734597 Free article.
288 results