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Article

Sequence analysis of TMEM173 exon 5 in patients with systemic autoimmune diseases.

Autoimmunity - 1 Jan 2016

Balada E, Selva-O'Callaghan A, Felip L, Ordi-Ros J, Simeón-Aznar C P, Solans-Laqué R, Vilardell-Tarrés M

Abstract excerpt

BACKGROUND: Overactivation of the interferon pathways has been demonstrated in patients suffering from different systemic autoimmune diseases (SADs). Genetic associations have been described for many genes involved in these pathways. Gain-of-function mutations in the TMEM173 gene have recently been reported in patients with autoinflammatory diseases that share some clinical features with SADs. METHODS: We aimed...

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PMID: 26593864
DOI: 10.3109/08916934.2015.1113404

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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