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The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.
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The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.
The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum. Nat Genet. 2002 Nov; 32(3):384-92.
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PubMed
subject areas
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
authors with profiles
David Bruce Mount, M.D.