KCC3Potassium-Chloride Cotransporter 3
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References in periodicals archive ?
The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.
[8] examined missense and protein-truncating mutations of the human potassium-chloride co-transporter 3 gene (KCC3) cause hereditary motor and sensory neuropathy with ACC, which is a severe neurodegenerative disease characterized by axonal dysfunction and neurodevelopmental defects.
signs Andermann 15q13 KCC3 Ataxia with 14q31 TDP1 neuropathy Giant axonal 16q24 GAN1 X-Linked CMTX Xq13.1 GJB1 (Females) CMTX2 Xp22.2 ?