Blar i SIHF Open Archive på tidsskrift "Orphanet Journal of Rare Diseases"
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HINT1 neuropathy in Norway: clinical, genetic and functional profiling
(Peer reviewed; Journal article, 2021)Background: Autosomal recessive axonal neuropathy with neuromyotonia has been linked to loss of functional HINT1. The disease is particularly prevalent in Central and South-East Europe, Turkey and Russia due to the high ...