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. Among authors: mathieu j.
Nat Genet. 2002 Nov;32(3):384-92. doi: 10.1038/ng1002. Epub 2002 Oct 7.
Nat Genet. 2002.
PMID: 12368912