WNK1
MIM.605232 12p13
Pathology
germline mutations in
- pseudohypoaldosteronism type 2 (MIM.145260)
- hereditary sensory neuropathy type 2 (#18521183#)
References
Shekarabi M, Girard N, Rivière JB, Dion P, Houle M, Toulouse A, Lafrenière RG, Vercauteren F, Hince P, Laganiere J, Rochefort D, Faivre L, Samuels M, Rouleau GA. Mutations in the nervous system-specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II. J Clin Invest. 2008 Jul;118(7):2496-505. PMID: #18521183#