Inherited or de novo mutation affecting aspartate 18 of TREX1 results in either familial chilblain lupus or Aicardi-Goutières syndrome
Research output: Contribution to journal › Research article › Contributed › peer-review
Contributors
Details
| Original language | English |
|---|---|
| Pages (from-to) | 212-214 |
| Number of pages | 3 |
| Journal | British Journal of Dermatology |
| Volume | 167 |
| Issue number | 1 |
| Publication status | Published - Jul 2012 |
| Peer-reviewed | Yes |
External IDs
| Scopus | 84863326630 |
|---|---|
| researchoutputwizard | legacy.publication#48071 |
| PubMed | 22356656 |
| ORCID | /0000-0003-3486-2824/work/152544401 |
| ORCID | /0000-0002-4330-1861/work/151982000 |
Keywords
Keywords
- Adolescent, Aspartic Acid/genetics, Autoimmune Diseases of the Nervous System/genetics, Chilblains/genetics, Exodeoxyribonucleases/genetics, Heterozygote, Humans, Lupus Erythematosus, Cutaneous/genetics, Male, Mutation/genetics, Nervous System Malformations/genetics, Phosphoproteins/genetics, Syndrome