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A rare regulatory variant in the MEF2D gene affects gene regulation and splicing and is associated with a SLE sub-phenotype in Swedish cohorts

Systemic lupus erythematosus (SLE) is an autoimmune disorder with heterogeneous clinical presentation and complex etiology involving the interplay between genetic, epigenetic, environmental and hormonal factors. Many common SNPs identified by genome wide-association studies (GWAS) explain only a sma...

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Detalles Bibliográficos
Autores principales: Farias, Fabiana H. G., Dahlqvist, Johanna, Kozyrev, Sergey V., Leonard, Dag, Wilbe, Maria, Abramov, Sergei N., Alexsson, Andrei, Pielberg, Gerli R., Hansson-Hamlin, Helene, Andersson, Göran, Tandre, Karolina, Bengtsson, Anders A., Sjöwall, Christopher, Svenungsson, Elisabet, Gunnarsson, Iva, Rantapää-Dahlqvist, Solbritt, Syvänen, Ann-Christine, Sandling, Johanna K., Eloranta, Maija-Leena, Rönnblom, Lars, Lindblad-Toh, Kerstin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6460566/
https://www.ncbi.nlm.nih.gov/pubmed/30459414
http://dx.doi.org/10.1038/s41431-018-0297-x