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Protein kinase D1 variant associated with human epilepsy and peripheral nerve hypermyelination. , Omer S., Clin Genet. August 1, 2021; 100 (2): 176-186.
De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy. , Park J ., J Med Genet. April 1, 2020; 57 (4): 283-288.
SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalus. , Jin SC., Mol Genet Genomic Med. September 1, 2019; 7 (9): e892.
Potassium-chloride cotransporter 3 interacts with Vav2 to synchronize the cell volume decrease response with cell protrusion dynamics. , Salin-Cantegrel A., PLoS One. May 15, 2013; 8 (5): e65294.
Transit defect of potassium-chloride Co-transporter 3 is a major pathogenic mechanism in hereditary motor and sensory neuropathy with agenesis of the corpus callosum. , Salin-Cantegrel A., J Biol Chem. August 12, 2011; 286 (32): 28456-65.
HMSN/ ACC truncation mutations disrupt brain-type creatine kinase-dependant activation of K+/Cl- co-transporter 3. , Salin-Cantegrel A., Hum Mol Genet. September 1, 2008; 17 (17): 2703-11.
The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum. , Howard HC., Nat Genet. November 1, 2002; 32 (3): 384-92.
Cloning and characterization of KCC3 and KCC4, new members of the cation-chloride cotransporter gene family. , Mount DB., J Biol Chem. June 4, 1999; 274 (23): 16355-62.