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WNK1

MIM.605232 12p13

Tuesday 22 July 2008

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