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The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor.
Bernal S, Alías L, Barceló MJ, Also-Rallo E, Martínez-Hernández R, Gámez J, Guillén-Navarro E, Rosell J, Hernando I, Rodríguez-Alvarez FJ, Borrego S, Millán JM, Hernández-Chico C, Baiget M, Fuentes-Prior P, Tizzano EF. Bernal S, et al. Among authors: also rallo e. J Med Genet. 2010 Sep;47(9):640-2. doi: 10.1136/jmg.2010.079004. Epub 2010 Jun 24. J Med Genet. 2010. PMID: 20577007
Plastin 3 expression in discordant spinal muscular atrophy (SMA) siblings.
Bernal S, Also-Rallo E, Martínez-Hernández R, Alías L, Rodríguez-Alvarez FJ, Millán JM, Hernández-Chico C, Baiget M, Tizzano EF. Bernal S, et al. Among authors: also rallo e. Neuromuscul Disord. 2011 Jun;21(6):413-9. doi: 10.1016/j.nmd.2011.03.009. Epub 2011 May 4. Neuromuscul Disord. 2011. PMID: 21546251
Accuracy of marker analysis, quantitative real-time polymerase chain reaction, and multiple ligation-dependent probe amplification to determine SMN2 copy number in patients with spinal muscular atrophy.
Alías L, Bernal S, Barceló MJ, Also-Rallo E, Martínez-Hernández R, Rodríguez-Alvarez FJ, Hernández-Chico C, Baiget M, Tizzano EF. Alías L, et al. Among authors: also rallo e. Genet Test Mol Biomarkers. 2011 Sep;15(9):587-94. doi: 10.1089/gtmb.2010.0253. Epub 2011 May 6. Genet Test Mol Biomarkers. 2011. PMID: 21548796
Evaluation of fetal nuchal translucency in 98 pregnancies at risk for severe spinal muscular atrophy: possible relevance of the SMN2 copy number.
Parra J, Alias L, Also-Rallo E, Martínez-Hernández R, Senosiain R, Medina C, Alejos O, Rams N, Amenedo M, Ormo F, Jesús Barceló M, Calaf J, Baiget M, Bernal S, Tizzano EF. Parra J, et al. Among authors: also rallo e. J Matern Fetal Neonatal Med. 2012 Aug;25(8):1246-9. doi: 10.3109/14767058.2011.636101. Epub 2011 Nov 30. J Matern Fetal Neonatal Med. 2012. PMID: 22082206
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