pubmed-article:21198797 | rdf:type | pubmed:Citation | lld:pubmed |
pubmed-article:21198797 | lifeskim:mentions | umls-concept:C0015576 | lld:lifeskim |
pubmed-article:21198797 | lifeskim:mentions | umls-concept:C1556094 | lld:lifeskim |
pubmed-article:21198797 | lifeskim:mentions | umls-concept:C0205145 | lld:lifeskim |
pubmed-article:21198797 | lifeskim:mentions | umls-concept:C0079301 | lld:lifeskim |
pubmed-article:21198797 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
pubmed-article:21198797 | lifeskim:mentions | umls-concept:C0034897 | lld:lifeskim |
pubmed-article:21198797 | lifeskim:mentions | umls-concept:C1416786 | lld:lifeskim |
pubmed-article:21198797 | lifeskim:mentions | umls-concept:C0205396 | lld:lifeskim |
pubmed-article:21198797 | lifeskim:mentions | umls-concept:C0679622 | lld:lifeskim |
pubmed-article:21198797 | lifeskim:mentions | umls-concept:C0205314 | lld:lifeskim |
pubmed-article:21198797 | pubmed:issue | 4 | lld:pubmed |
pubmed-article:21198797 | pubmed:dateCreated | 2011-5-13 | lld:pubmed |
pubmed-article:21198797 | pubmed:abstractText | Herlitz junctional epidermolysis bullosa (H-JEB) is an extremely rare genodermatosis characterized by lethality owing to severe blister formation. We report two unrelated Japanese patients with H-JEB. Genetic analyses detected a single nonsense mutation on the LAMC2 gene in these two patients. | lld:pubmed |
pubmed-article:21198797 | pubmed:language | eng | lld:pubmed |
pubmed-article:21198797 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:21198797 | pubmed:citationSubset | IM | lld:pubmed |
pubmed-article:21198797 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:21198797 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:21198797 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:21198797 | pubmed:status | MEDLINE | lld:pubmed |
pubmed-article:21198797 | pubmed:month | Jun | lld:pubmed |
pubmed-article:21198797 | pubmed:issn | 1365-2230 | lld:pubmed |
pubmed-article:21198797 | pubmed:author | pubmed-author:OuchiTT | lld:pubmed |
pubmed-article:21198797 | pubmed:author | pubmed-author:LiKK | lld:pubmed |
pubmed-article:21198797 | pubmed:author | pubmed-author:ShimizuAA | lld:pubmed |
pubmed-article:21198797 | pubmed:author | pubmed-author:MasunagaTT | lld:pubmed |
pubmed-article:21198797 | pubmed:author | pubmed-author:IshikoAA | lld:pubmed |
pubmed-article:21198797 | pubmed:author | pubmed-author:SueokaKK | lld:pubmed |
pubmed-article:21198797 | pubmed:author | pubmed-author:KounoMM | lld:pubmed |
pubmed-article:21198797 | pubmed:copyrightInfo | © The Author(s). CED © 2010 British Association of Dermatologists. | lld:pubmed |
pubmed-article:21198797 | pubmed:issnType | Electronic | lld:pubmed |
pubmed-article:21198797 | pubmed:volume | 36 | lld:pubmed |
pubmed-article:21198797 | pubmed:owner | NLM | lld:pubmed |
pubmed-article:21198797 | pubmed:authorsComplete | Y | lld:pubmed |
pubmed-article:21198797 | pubmed:pagination | 386-92 | lld:pubmed |
pubmed-article:21198797 | pubmed:dateRevised | 2011-11-17 | lld:pubmed |
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pubmed-article:21198797 | pubmed:year | 2011 | lld:pubmed |
pubmed-article:21198797 | pubmed:articleTitle | A Japanese-specific recurrent mutation and a novel splice site mutation in the LAMC2 gene identified in two Japanese families with Herlitz junctional epidermolysis bullosa. | lld:pubmed |
pubmed-article:21198797 | pubmed:affiliation | Department of Dermatology, Keio University School of Medicine, Tokyo, Japan. | lld:pubmed |
pubmed-article:21198797 | pubmed:publicationType | Journal Article | lld:pubmed |
pubmed-article:21198797 | pubmed:publicationType | Case Reports | lld:pubmed |
pubmed-article:21198797 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |