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A functional variant that affects exon-skipping and protein expression of SP140 as genetic mechanism predisposing to multiple sclerosis.
Matesanz F, Potenciano V, Fedetz M, Ramos-Mozo P, Abad-Grau Mdel M, Karaky M, Barrionuevo C, Izquierdo G, Ruiz-Peña JL, García-Sánchez MI, Lucas M, Fernández Ó, Leyva L, Otaegui D, Muñoz-Culla M, Olascoaga J, Vandenbroeck K, Alloza I, Astobiza I, Antigüedad A, Villar LM, Álvarez-Cermeño JC, Malhotra S, Comabella M, Montalban X, Saiz A, Blanco Y, Arroyo R, Varadé J, Urcelay E, Alcina A. Matesanz F, et al. Among authors: abad grau mdel m. Hum Mol Genet. 2015 Oct 1;24(19):5619-27. doi: 10.1093/hmg/ddv256. Epub 2015 Jul 7. Hum Mol Genet. 2015. PMID: 26152201
Identification of a functional variant in the KIF5A-CYP27B1-METTL1-FAM119B locus associated with multiple sclerosis.
Alcina A, Fedetz M, Fernández O, Saiz A, Izquierdo G, Lucas M, Leyva L, García-León JA, Abad-Grau Mdel M, Alloza I, Antigüedad A, Garcia-Barcina MJ, Vandenbroeck K, Varadé J, de la Hera B, Arroyo R, Comabella M, Montalban X, Petit-Marty N, Navarro A, Otaegui D, Olascoaga J, Blanco Y, Urcelay E, Matesanz F. Alcina A, et al. Among authors: abad grau mdel m. J Med Genet. 2013 Jan;50(1):25-33. doi: 10.1136/jmedgenet-2012-101085. Epub 2012 Nov 17. J Med Genet. 2013. PMID: 23160276 Free PMC article.