pubmed-article:18711109 | rdf:type | pubmed:Citation | lld:pubmed |
pubmed-article:18711109 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
pubmed-article:18711109 | lifeskim:mentions | umls-concept:C0014547 | lld:lifeskim |
pubmed-article:18711109 | lifeskim:mentions | umls-concept:C0443147 | lld:lifeskim |
pubmed-article:18711109 | lifeskim:mentions | umls-concept:C1367458 | lld:lifeskim |
pubmed-article:18711109 | lifeskim:mentions | umls-concept:C0524899 | lld:lifeskim |
pubmed-article:18711109 | lifeskim:mentions | umls-concept:C0439825 | lld:lifeskim |
pubmed-article:18711109 | lifeskim:mentions | umls-concept:C2348519 | lld:lifeskim |
pubmed-article:18711109 | pubmed:issue | 8 | lld:pubmed |
pubmed-article:18711109 | pubmed:dateCreated | 2008-8-19 | lld:pubmed |
pubmed-article:18711109 | pubmed:abstractText | Assessment of the penetrance of disease-causing mutations is extremely important for developing clinical applications of gene discovery, such as genetic testing and counseling. Mutations in the leucine-rich, glioma inactivated 1 gene (LGI1) have been identified in about 50% of families with autosomal dominant partial epilepsy with auditory features (ADPEAF), but estimates of LGI1 mutation penetrance have ranged widely, from 50 to 85%. The current study aimed to provide a more precise estimate of LGI1 mutation penetrance. | lld:pubmed |
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pubmed-article:18711109 | pubmed:language | eng | lld:pubmed |
pubmed-article:18711109 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:18711109 | pubmed:citationSubset | AIM | lld:pubmed |
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pubmed-article:18711109 | pubmed:status | MEDLINE | lld:pubmed |
pubmed-article:18711109 | pubmed:month | Aug | lld:pubmed |
pubmed-article:18711109 | pubmed:issn | 1526-632X | lld:pubmed |
pubmed-article:18711109 | pubmed:author | pubmed-author:OttmanRuthR | lld:pubmed |
pubmed-article:18711109 | pubmed:author | pubmed-author:RosanoffMicha... | lld:pubmed |
pubmed-article:18711109 | pubmed:issnType | Electronic | lld:pubmed |
pubmed-article:18711109 | pubmed:day | 19 | lld:pubmed |
pubmed-article:18711109 | pubmed:volume | 71 | lld:pubmed |
pubmed-article:18711109 | pubmed:owner | NLM | lld:pubmed |
pubmed-article:18711109 | pubmed:authorsComplete | Y | lld:pubmed |
pubmed-article:18711109 | pubmed:pagination | 567-71 | lld:pubmed |
pubmed-article:18711109 | pubmed:dateRevised | 2010-12-3 | lld:pubmed |
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pubmed-article:18711109 | pubmed:meshHeading | pubmed-meshheading:18711109... | lld:pubmed |
pubmed-article:18711109 | pubmed:year | 2008 | lld:pubmed |
pubmed-article:18711109 | pubmed:articleTitle | Penetrance of LGI1 mutations in autosomal dominant partial epilepsy with auditory features. | lld:pubmed |
pubmed-article:18711109 | pubmed:affiliation | G.H. Sergievsky Center, Columbia University, 630 W. 168th Street, P&S Box 16, New York, NY 10032, USA. ro6@columbia.edu | lld:pubmed |
pubmed-article:18711109 | pubmed:publicationType | Journal Article | lld:pubmed |
pubmed-article:18711109 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
pubmed-article:18711109 | pubmed:publicationType | Research Support, N.I.H., Extramural | lld:pubmed |
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