Associated Papers
De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy.
Park J et al.
Journal of Medical Genetics, 2020
Physiology of SLC12 transporters: lessons from inherited human genetic mutations and genetically engineered mouse knockouts.
Gagnon KB et al.
American Journal of Physiology. Cell Physiology, 2013
Andermann syndrome can be a phenocopy of hereditary motor and sensory neuropathy--report of a discordant sibship with a compound heterozygous mutation of the KCC3 gene.
Rudnik-Schöneborn S et al.
Neuropediatrics, 2009
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