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Br J Dermatol. 2012 Jul;167(1):212-4. doi: 10.1111/j.1365-2133.2012.10813.x.

Inherited or de novo mutation affecting aspartate 18 of TREX1 results in either familial chilblain lupus or Aicardi-Goutières syndrome.

PMID:
22356656
[PubMed - indexed for MEDLINE]
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