Mutations in the nervous system–specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II

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...

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Auteurs principaux: 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.
Format: Artigo
Langue:Inglês
Publié: American Society for Clinical Investigation 2008
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2398735/
https://ncbi.nlm.nih.gov/pubmed/18521183
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI34088
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