Article

Characterization of novel TMEM173 mutation with additive IFIH1 risk allele

2018-08-17

Abstract excerpt

TMEM173 encodes for STING that is a transmembrane protein activated by pathogen or self-derived cytosolic nucleic acids causing its translocation from ER to Golgi, and further to vesicles. Monogenic STING gain-of-function mutations cause early-onset type I interferonopathy, with disease presentation ranging from fatal vasculopathy to mild chilblain lupus. Molecular mechanisms causing the poor phenotypegenotype cor...

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Literature Corpus work: 2aa7696c-7f8d-5fa4-8fd7-4665b5cba5b5
DOI: 10.1101/394353

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