Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy

Lupski, James R., Reid, Jeffrey G., Gonzaga-Jauregui, Claudia, Rio Deiros, David, Chen, David C.Y., Nazareth, Lynne, Bainbridge, Matthew, Dinh, Huyen, Jing, Chyn, Wheeler, David A., McGuire, Amy L., Zhang, Feng, Stankiewicz, Pawel, Halperin, John J., Yang, Chengyong, Gehman, Curtis, Guo, Danwei, Irikat, Rola K., Tom, Warren, Fantin, Nick J., Muzny, Donna M., Gibbs, Richard A.·2010·New England Journal of Medicine
DOI 10.1056/nejmoa0908094

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