| pubmed-article:20131292 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:20131292 | lifeskim:mentions | umls-concept:C0409974 | lld:lifeskim |
| pubmed-article:20131292 | lifeskim:mentions | umls-concept:C0039082 | lld:lifeskim |
| pubmed-article:20131292 | lifeskim:mentions | umls-concept:C2827424 | lld:lifeskim |
| pubmed-article:20131292 | pubmed:issue | 5 | lld:pubmed |
| pubmed-article:20131292 | pubmed:dateCreated | 2010-5-12 | lld:pubmed |
| pubmed-article:20131292 | pubmed:abstractText | Aicardi-Goutières syndrome (AGS) is an early-onset encephalopathy resembling congenital viral infection that is characterized by basal ganglia calcifications, loss of white matter, cerebrospinal fluid (CSF) lymphocytosis, and elevated interferon-alpha levels in the CSF. Studies have shown that AGS is an autosomal-recessive disease linked to mutations in 5 genes, encoding the 3'-repair DNA exonuclease 1 (TREX1), the 3 subunits of ribonuclease H2 (RNASEH2A-C), and sterile alpha motif domain and HD domain-containing protein 1 (SAMHD1). In this study we further characterized the phenotypic spectrum of this disease. | lld:pubmed |
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| pubmed-article:20131292 | pubmed:language | eng | lld:pubmed |
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| pubmed-article:20131292 | pubmed:citationSubset | AIM | lld:pubmed |
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| pubmed-article:20131292 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:20131292 | pubmed:month | May | lld:pubmed |
| pubmed-article:20131292 | pubmed:issn | 1529-0131 | lld:pubmed |
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| pubmed-article:20131292 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:20131292 | pubmed:volume | 62 | lld:pubmed |
| pubmed-article:20131292 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:20131292 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:20131292 | pubmed:pagination | 1469-77 | lld:pubmed |
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| pubmed-article:20131292 | pubmed:year | 2010 | lld:pubmed |
| pubmed-article:20131292 | pubmed:articleTitle | Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. | lld:pubmed |
| pubmed-article:20131292 | pubmed:affiliation | Technische Universität Dresden, Dresden, Germany. | lld:pubmed |
| pubmed-article:20131292 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:20131292 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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