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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: The American Society of Human Genetics 2007
Soggetti:
Report
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1852703/
https://ncbi.nlm.nih.gov/pubmed/17357087
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi