Novel mutation in the HSN2 gene in a Korean patient with hereditary sensory and autonomic neuropathy type 2
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/jhg2006140.pdf
Reference8 articles.
1. Coen K, Pareyson D, Auer-Grumbach M, Buyse G, Goemans N, Claeys KG, Verpoorten N, Laura M, Scaioli V, Salmhofer W, Pieber TR, Nelis E, De Jonghe P, Timmerman V (2006) Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II. Neurology 66:748–751
2. Kondo K, Horikawa Y (1974) Genetic heterogeneity of hereditary sensory neuropathy. Arch Neurol 30:336–337
3. Lafreniere RG, MacDonald ML, Dube MP, MacFarlane J, O’Driscoll M, Brais B, Meilleur S, Brinkman RR, Dadivas O, Pape T, Platon C, Radomski C, Risler J, Thompson J, Guerra-Escobio AM, Davar G, Breakefield XO, Pimstone SN, Green R, Pryse-Phillips W, Goldberg YP, Younghusband HB, Hayden MR, Sherrington R, Rouleau GA, Samuels ME (2004) 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 74:1064–1073
4. Murray TJ (1973) Congenital sensory neuropathy. Brain 96:387–394
5. Ota M, Ellefson RD, Lambert EH, Dyck PJ (1973) Hereditary sensory neuropathy, type II. Clinical, electrophysiologic, histologic, and biochemical studies of a Quebec kinship. Arch Neurol 29:23–37
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