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Exome sequencing in multiple sclerosis families identifies 12 candidate genes and nominates biological pathways for the genesis of disease

Multiple sclerosis (MS) is an inflammatory disease of the central nervous system characterized by myelin loss and neuronal dysfunction. Although the majority of patients do not present familial aggregation, Mendelian forms have been described. We performed whole-exome sequencing analysis in 132 pati...

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Detalles Bibliográficos
Autores principales: Vilariño-Güell, Carles, Zimprich, Alexander, Martinelli-Boneschi, Filippo, Herculano, Bruno, Wang, Zhe, Matesanz, Fuencisla, Urcelay, Elena, Vandenbroeck, Koen, Leyva, Laura, Gris, Denis, Massaad, Charbel, Quandt, Jacqueline A., Traboulsee, Anthony L., Encarnacion, Mary, Bernales, Cecily Q., Follett, Jordan, Yee, Irene M., Criscuoli, Maria G., Deutschländer, Angela, Reinthaler, Eva M., Zrzavy, Tobias, Mascia, Elisabetta, Zauli, Andrea, Esposito, Federica, Alcina, Antonio, Izquierdo, Guillermo, Espino-Paisán, Laura, Mena, Jorge, Antigüedad, Alfredo, Urbaneja-Romero, Patricia, Ortega-Pinazo, Jesús, Song, Weihong, Sadovnick, A. Dessa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6553700/
https://www.ncbi.nlm.nih.gov/pubmed/31170158
http://dx.doi.org/10.1371/journal.pgen.1008180