Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/ejhg2013231.pdf
Reference35 articles.
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2. Boerkoel CF, Takashima H, Garcia CA et al: Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. Ann Neurol 2002; 51: 190–201.
3. Kaplan JC : The 2012 version of the gene table of monogenic neuromuscular disorders. Neuromuscul Disord 2011; 21: 833–861.
4. Barisic N, Claeys KG, Sirotkovic-Skerlev M et al: Charcot-Marie-Tooth disease: a clinico-genetic confrontation. Ann Hum Genet 2008; 72: 416–441.
5. Zuchner S, Vance JM : Molecular genetics of autosomal-dominant axonal Charcot-Marie-Tooth disease. Neuromol Med 2006; 8: 63–74.
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