HINT1 mutations define a novel disease entity – autosomal recessive axonal neuropathy with neuromyotonia


  • F Aminkeng

    Corresponding author
    • The Canadian Pharmacogenomic Network for Drug Safety (CPNDS), Center for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
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e-mail: folefac@cmmt.ubc.ca


Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia

Zimoń et al. (2012)

Nature Genetics 44 (10):1080–1083.