Familial chilblain lupus due to a gain-of-function mutation in STING
Familial chilblain lupus due to a gain-of-function mutation in STING
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Publisher
England: Elsevier Limited
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Language
English
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Publisher
England: Elsevier Limited
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Contents
ObjectivesFamilial 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.MethodsExome sequencing was used for disease gene identification....
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Full title
Familial chilblain lupus due to a gain-of-function mutation in STING
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TN_cdi_proquest_miscellaneous_1868322096
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1868322096
Other Identifiers
ISSN
0003-4967
E-ISSN
1468-2060
DOI
10.1136/annrheumdis-2016-209841
