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, McDonald MP, Bouchard JP, Mathieu J, Delpire E, Rouleau GA
Nat Genet. 2002 32 (3): 384-92

PMID: 12368912 · DOI:10.1038/ng1002

MeSH Terms (32)

Agenesis of Corpus Callosum Animals Blotting, Southern Brain Canada Chromosomes, Human, Pair 15 Corpus Callosum Exons Gene Deletion Genes, Recessive Haplotypes Homozygote Humans Immunoblotting Mice Mice, Knockout Microscopy, Fluorescence Models, Genetic Molecular Sequence Data Mutation Open Reading Frames Peripheral Nervous System Diseases Phenotype Polymorphism, Genetic Recombination, Genetic Reverse Transcriptase Polymerase Chain Reaction Sequence Analysis, DNA Sodium-Potassium-Chloride Symporters Spinal Cord Symporters Time Factors Xenopus

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