Article
Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II.
The Journal of clinical investigation - 1 Jul 2008
Shekarabi Masoud, Girard Nathalie, Rivière Jean-Baptiste, Dion Patrick, Houle Martin, Toulouse André, Lafrenière Ronald G, Vercauteren Freya, Hince Pascale, Laganiere Janet, Rochefort Daniel, Faivre Laurence, Samuels Mark, Rouleau Guy A
Abstract excerpt
Hereditary sensory and autonomic neuropathy type II (HSANII) is an early-onset autosomal recessive disorder characterized by loss of perception to pain, touch, and heat due to a loss of peripheral sensory nerves. Mutations in hereditary sensory neuropathy type II (HSN2), a single-exon ORF originally identified in affected families in Quebec and Newfoundland, Canada, were found to cause HSANII. We report here that...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.