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Original paper

Familial chilblain lupus due to a gain-of-function mutation in STING

Volume: 76, Issue: 2, Pages: 468 - 472
Published: Aug 27, 2016
Abstract
Familial chilblain lupus is a monogenic form of cutaneous lupus erythematosus caused by loss-of-function mutations in the nucleases TREX1 or SAMHD1. In a family without TREX1 or SAMHD1 mutation, we sought to determine the causative gene and the underlying disease pathology. Exome sequencing was used for disease gene identification. Structural analysis was performed by homology modelling and docking simulations. Type I interferon (IFN) activation...
Paper Details
Title
Familial chilblain lupus due to a gain-of-function mutation in STING
Published Date
Aug 27, 2016
Volume
76
Issue
2
Pages
468 - 472
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