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ROSE , Yoann

Last name: ROSE

First name: Yoann

2017 (v1)

Publication

Metadata-only

Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling

Melki, Isabelle Rose, Yoann Uggenti, Carolina

Background Gain-of-function mutations in transmembrane protein 173 (TMEM173) encoding stimulator of interferon genes (STING) underlie a recently described type I interferonopathy called STING-associated vasculopathy with onset in infancy (SAVI). Objectives We sought to define the molecular and cellular pathology relating to 3 individuals...

Uploaded on: April 14, 2023