Heterozygous Mutations in TREX1 Cause Familial Chilblain Lupus and Dominant Aicardi-Goutières Syndrome

TREX1 constitutes the major 3′→5′ DNA exonuclease activity measured in mammalian cells. Recently, biallelic mutations in TREX1 have been shown to cause Aicardi-Goutières syndrome at the AGS1 locus. Interestingly, Aicardi-Goutières syndrome shows overlap with systemic lupus erythematosus at both clin...

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Hlavní autoři: Rice, Gillian, Newman, William G., Dean, John, Patrick, Teresa, Parmar, Rekha, Flintoff, Kim, Robins, Peter, Harvey, Scott, Hollis, Thomas, O’Hara, Ann, Herrick, Ariane L., Bowden, Andrew P., Perrino, Fred W., Lindahl, Tomas, Barnes, Deborah E., Crow, Yanick J.
Médium: Artigo
Jazyk:Inglês
Vydáno: The American Society of Human Genetics 2007
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1852703/
https://ncbi.nlm.nih.gov/pubmed/17357087
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