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A rare myelin protein zero (MPZ) variant alters enhancer activity in vitro and in vivo.
Antonellis A, Dennis MY, Burzynski G, Huynh J, Maduro V, Hodonsky CJ, Khajavi M, Szigeti K, Mukkamala S, Bessling SL, Pavan WJ, McCallion AS, Lupski JR, Green ED; NISC Comparative Sequencing Program. Antonellis A, et al. PLoS One. 2010 Dec 16;5(12):e14346. doi: 10.1371/journal.pone.0014346. PLoS One. 2010. PMID: 21179557 Free PMC article.
Genomics of long-range regulatory elements.
Noonan JP, McCallion AS. Noonan JP, et al. Annu Rev Genomics Hum Genet. 2010;11:1-23. doi: 10.1146/annurev-genom-082509-141651. Annu Rev Genomics Hum Genet. 2010. PMID: 20438361 Review.