Severe phenotypes in a Charcot–Marie–Tooth 1A patient with PMP22 triplication
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/jhg2014102.pdf
Reference18 articles.
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2. Lupski, J. R ., de Oca-Luna, R. M ., Slaugenhaupt, S ., Pentao, L ., Guzzetta, V . & Trask, B. J . et al. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 66, 219–232 (1991).
3. Chance, P. F ., Alderson, M. K ., Leppig, K. A ., Lensch, M. W ., Matsunami, N . & Smith, B . et al. DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 72, 143–151 (1993).
4. Nelis, E ., Van Broeckhoven, C ., De Jonghe, P ., Löfgren, A ., Vandenberghe, A . & Latour, P . et al. Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. Eur. J. Hum. Genet. 4, 25–33 (1996).
5. Choi, B. O ., Lee, M. S ., Shin, S. H ., Hwang, J. H ., Choi, K. G . & Kim, W. K . et al. Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients. Hum. Mutat. 24, 185–186 (2004).
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