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Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity.

Abstract:

Aicardi-Goutières syndrome (AGS) is a genetically determined encephalopathy demonstrating phenotypic overlap both with the sequelae of congenital infection and with systemic lupus erythematosus (SLE). Recent molecular advances have revealed that AGS can be caused by mutations in any one of five genes, most commonly on a recessive basis but occasionally as a dominant trait. Like AGS, SLE is associated with a perturbation of type I interferon metabolism. Interestingly then, heterozygous mutatio...

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Publication status:
Published

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Publisher copy:
10.1093/hmg/ddp293

Authors


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Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
Weatherall Insti. of Molecular Medicine
Role:
Author
Journal:
Human molecular genetics More from this journal
Volume:
18
Issue:
R2
Pages:
R130-R136
Publication date:
2009-10-01
DOI:
EISSN:
1460-2083
ISSN:
0964-6906
Language:
English
Keywords:
Pubs id:
pubs:353646
UUID:
uuid:0d694f81-8110-4ba0-93bd-653bd223440a
Local pid:
pubs:353646
Source identifiers:
353646
Deposit date:
2013-11-16

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