A novel biallelic single base insertion in WNK1 in a Pakistani family with congenital insensitivity to pain
Author:
Funder
Gouvernement du Canada | Canadian Institutes of Health Research
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/s10038-020-0734-x.pdf
Reference13 articles.
1. Lafreniere RG, MacDonald ML, Dube MP, MacFarlane J, O’Driscoll M, Brais B, et al. Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the study of Canadian genetic isolates. Am J Hum Genet. 2004;74:1064–73.
2. Rivière JB, Verlaan DJ, Shekarabi M, Lafrenière RG, Bénard M, Der Kaloustian VM, et al. A mutation in the HSN2 gene causes sensory neuropathy type II in a Lebanese family. Ann Neurol. 2004;56:572–5.
3. Roddier K, Thomas T, Marleau G, Gagnon AM, Dicaire MJ, St-Denis A, et al. Two mutations in the HSN2 gene explain the high prevalence of HSAN2 in French Canadians. Neurology. 2005;64:1762–7.
4. Cho HJ, Kim BJ, Suh YL, An JY, Ki CS. Novel mutation in the HSN2 gene in a Korean patient with hereditary sensory and autonomic neuropathy type 2. J Hum Genet. 2006;51:905–8.
5. Coen K, Pareyson D, Auer-Grumbach M, Buyse G, Goemans N, Claeys KG, et al. Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II. Neurology. 2006;66:748–51.
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