HINT1mutations define a novel disease entity – autosomal recessive axonal neuropathy with neuromyotonia
Author Information: The Canadian Pharmacogenomic Network for Drug Safety (CPNDS), Center for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia, 950 West 28th Avenue, Vancouver, BC, V5Z4H4, Canada.
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Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia
Zimoń et al. (2012)
Nature Genetics 44 (10):1080–1083.