A functional variant that affects exon-skipping and protein expression of SP140 as genetic mechanism predisposing to multiple sclerosis.

doi:10.1093/hmg/ddv256

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A functional variant that affects exon-skipping and protein expression of SP140 as genetic mechanism predisposing to multiple sclerosis.

Human molecular genetics - 1 Oct 2015

Matesanz Fuencisla, Potenciano Victor, Fedetz Maria, Ramos-Mozo Priscila, Abad-Grau María del Mar, Karaky Mohamad, Barrionuevo Cristina, Izquierdo Guillermo, Ruiz-Peña Juan Luis, García-Sánchez María Isabel, Lucas Miguel, Fernández Óscar, Leyva Laura, Otaegui David, Muñoz-Culla Maider, Olascoaga Javier, Vandenbroeck Koen, Alloza Iraide, Astobiza Ianire, Antigüedad Alfredo, Villar Luisa María, Álvarez-Cermeño José Carlos, Malhotra Sunny, Comabella Manuel, Montalban Xavier, Saiz Albert, Blanco Yolanda, Arroyo Rafael, Varadé Jezabel, Urcelay Elena, Alcina Antonio

Abstract excerpt

Several variants in strong linkage disequilibrium (LD) at the SP140 locus have been associated with multiple sclerosis (MS), Crohn's disease (CD) and chronic lymphocytic leukemia (CLL). To determine the causal polymorphism, we have integrated high-density data sets of expression quantitative trai...

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PMID: 26152201
DOI: 10.1093/hmg/ddv256

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-26152201-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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