pubmed-article:14761782 | rdf:type | pubmed:Citation | lld:pubmed |
pubmed-article:14761782 | lifeskim:mentions | umls-concept:C0018787 | lld:lifeskim |
pubmed-article:14761782 | lifeskim:mentions | umls-concept:C0596962 | lld:lifeskim |
pubmed-article:14761782 | lifeskim:mentions | umls-concept:C1854063 | lld:lifeskim |
pubmed-article:14761782 | lifeskim:mentions | umls-concept:C0678594 | lld:lifeskim |
pubmed-article:14761782 | pubmed:issue | 1 | lld:pubmed |
pubmed-article:14761782 | pubmed:dateCreated | 2004-2-5 | lld:pubmed |
pubmed-article:14761782 | pubmed:abstractText | Carvajal syndrome is a familial cardiocutaneous syndrome consisting of woolly hair, palmoplantar keratoderma, and heart disease. It is caused by a recessive deletion mutation in desmoplakin, an intracellular protein that links desmosomal adhesion molecules to intermediate filaments of the cytoskeleton. The pathology of Carvajal syndrome has not been described. | lld:pubmed |
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pubmed-article:14761782 | pubmed:language | eng | lld:pubmed |
pubmed-article:14761782 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:14761782 | pubmed:citationSubset | IM | lld:pubmed |
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pubmed-article:14761782 | pubmed:status | MEDLINE | lld:pubmed |
pubmed-article:14761782 | pubmed:issn | 1054-8807 | lld:pubmed |
pubmed-article:14761782 | pubmed:author | pubmed-author:ThieneGaetano... | lld:pubmed |
pubmed-article:14761782 | pubmed:author | pubmed-author:SaffitzJeffre... | lld:pubmed |
pubmed-article:14761782 | pubmed:author | pubmed-author:KaplanStarr... | lld:pubmed |
pubmed-article:14761782 | pubmed:author | pubmed-author:GardJoseph... | lld:pubmed |
pubmed-article:14761782 | pubmed:author | pubmed-author:Carvajal-Huer... | lld:pubmed |
pubmed-article:14761782 | pubmed:author | pubmed-author:Ruiz-CabezasJ... | lld:pubmed |
pubmed-article:14761782 | pubmed:issnType | Print | lld:pubmed |
pubmed-article:14761782 | pubmed:volume | 13 | lld:pubmed |
pubmed-article:14761782 | pubmed:owner | NLM | lld:pubmed |
pubmed-article:14761782 | pubmed:authorsComplete | Y | lld:pubmed |
pubmed-article:14761782 | pubmed:pagination | 26-32 | lld:pubmed |
pubmed-article:14761782 | pubmed:dateRevised | 2007-11-14 | lld:pubmed |
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pubmed-article:14761782 | pubmed:articleTitle | Structural and molecular pathology of the heart in Carvajal syndrome. | lld:pubmed |
pubmed-article:14761782 | pubmed:affiliation | Department of Pathology and the Center for Cardiovascular Research, Washington University School of Medicine, Box 8118, 660 South Euclid Avenue, St. Louis, MO 63110, USA. | lld:pubmed |
pubmed-article:14761782 | pubmed:publicationType | Journal Article | lld:pubmed |
pubmed-article:14761782 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
pubmed-article:14761782 | pubmed:publicationType | Case Reports | lld:pubmed |
pubmed-article:14761782 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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