Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome.
摘要：
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 clinical and pathological levels. Here, we report a heterozygous TREX1 mutation causing familial chilblain lupus. Additionally, we describe a de novo heterozygous mutation, affecting a critical catalytic residue in TREX1, that results in typical Aicardi-Goutières syndrome.
展开
关键词：
Humans Cell Line Basal Ganglia Diseases Syndrome Exodeoxyribonucleases Phosphoproteins Pedigree Sequence Analysis, DNA Base Sequence Mutation
DOI：
10.1086/513443
被引量：
年份：
2007
Elsevier
国家科技图书文献中心
(权威机构)
万方
掌桥科研
Semantic Scholar
查看更多
dx.doi.org
NCBI
Pubmed Central
(全网免费下载)
Europe PMC
Cell Press
(全网免费下载)
Cell Press
NCBI
Europe PMC
(全网免费下载)
ResearchGate
ProQuest
ResearchGate
(全网免费下载)
EBSCO
EBSCO
mendeley.com
jacionline.org
manchester.ac.uk
onAcademic
mysciencework.com
pubfacts.com
scienceopen.com
readcube.com
core.ac.uk
infona.pl
forest.ckcest.cn
core.ac.uk
(全网免费下载)
bvsalud.org
pubget.com
Cell Press
(全网免费下载)
Europe PMC
(全网免费下载)
Pubmed Central
(全网免费下载)
ResearchGate
(全网免费下载)
core.ac.uk
(全网免费下载)
通过文献互助平台发起求助，成功后即可免费获取论文全文。
相似文献
参考文献
引证文献
来源期刊
引用走势
辅助模式
引用
文献可以批量引用啦~
欢迎点我试用！
