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A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy.
Monani UR, Pastore MT, Gavrilina TO, Jablonka S, Le TT, Andreassi C, DiCocco JM, Lorson C, Androphy EJ, Sendtner M, Podell M, Burghes AH. Monani UR, et al. Among authors: gavrilina to. J Cell Biol. 2003 Jan 6;160(1):41-52. doi: 10.1083/jcb.200208079. Epub 2003 Jan 6. J Cell Biol. 2003. PMID: 12515823 Free PMC article.
Embryonic motor axon development in the severe SMA mouse.
McGovern VL, Gavrilina TO, Beattie CE, Burghes AH. McGovern VL, et al. Among authors: gavrilina to. Hum Mol Genet. 2008 Sep 15;17(18):2900-9. doi: 10.1093/hmg/ddn189. Epub 2008 Jul 3. Hum Mol Genet. 2008. PMID: 18603534 Free PMC article.