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The Rare IL22RA2 Signal Peptide Coding Variant rs28385692 Decreases Secretion of IL-22BP Isoform-1, -2 and -3 and Is Associated with Risk for Multiple Sclerosis

The IL22RA2 locus is associated with risk for multiple sclerosis (MS) but causative variants are yet to be determined. In a single nucleotide polymorphism (SNP) screen of this locus in a Basque population, rs28385692, a rare coding variant substituting Leu for Pro at position 16 emerged significantl...

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Detalles Bibliográficos
Autores principales: Gómez-Fernández, Paloma, Lopez de Lapuente Portilla, Aitzkoa, Astobiza, Ianire, Mena, Jorge, Urtasun, Andoni, Altmann, Vivian, Matesanz, Fuencisla, Otaegui, David, Urcelay, Elena, Antigüedad, Alfredo, Malhotra, Sunny, Montalban, Xavier, Castillo-Triviño, Tamara, Espino-Paisán, Laura, Aktas, Orhan, Buttmann, Mathias, Chan, Andrew, Fontaine, Bertrand, Gourraud, Pierre-Antoine, Hecker, Michael, Hoffjan, Sabine, Kubisch, Christian, Kümpfel, Tania, Luessi, Felix, Zettl, Uwe K., Zipp, Frauke, Alloza, Iraide, Comabella, Manuel, Lill, Christina M., Vandenbroeck, Koen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7017210/
https://www.ncbi.nlm.nih.gov/pubmed/31936765
http://dx.doi.org/10.3390/cells9010175