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NH2-terminal heterogeneity in the KCC3 K+-Cl- cotransporter.
Mercado A, Vázquez N, Song L, Cortés R, Enck AH, Welch R, Delpire E, Gamba G, Mount DB. Mercado A, et al. Am J Physiol Renal Physiol. 2005 Dec;289(6):F1246-61. doi: 10.1152/ajprenal.00464.2004. Epub 2005 Jul 26. Am J Physiol Renal Physiol. 2005. PMID: 16048901 Free article.
The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.
Howard HC, Mount DB, Rochefort D, Byun N, Dupré N, Lu J, Fan X, Song L, Rivière JB, Prévost C, Horst J, Simonati A, Lemcke B, Welch R, England R, Zhan FQ, Mercado A, Siesser WB, George AL Jr, McDonald MP, Bouchard JP, Mathieu J, Delpire E, Rouleau GA. Howard HC, et al. Nat Genet. 2002 Nov;32(3):384-92. doi: 10.1038/ng1002. Epub 2002 Oct 7. Nat Genet. 2002. PMID: 12368912