| pubmed-article:1852208 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:1852208 | lifeskim:mentions | umls-concept:C0060321 | lld:lifeskim |
| pubmed-article:1852208 | lifeskim:mentions | umls-concept:C0017337 | lld:lifeskim |
| pubmed-article:1852208 | lifeskim:mentions | umls-concept:C0024796 | lld:lifeskim |
| pubmed-article:1852208 | lifeskim:mentions | umls-concept:C1314792 | lld:lifeskim |
| pubmed-article:1852208 | lifeskim:mentions | umls-concept:C0034897 | lld:lifeskim |
| pubmed-article:1852208 | lifeskim:mentions | umls-concept:C0599155 | lld:lifeskim |
| pubmed-article:1852208 | lifeskim:mentions | umls-concept:C1515568 | lld:lifeskim |
| pubmed-article:1852208 | pubmed:issue | 6333 | lld:pubmed |
| pubmed-article:1852208 | pubmed:dateCreated | 1991-8-22 | lld:pubmed |
| pubmed-article:1852208 | pubmed:abstractText | Marfan syndrome is an inherited disorder of connective tissue manifested in the ocular, skeletal and cardiovascular systems. It is inherited as an autosomal dominant with high penetrance, but has great clinical variability. Linkage studies have mapped the Marfan locus to chromosome 15q15-21.3. There have been no reports of genetic heterogeneity in the syndrome. Following the identification of fibrillin (a glycoprotein component of the extracellular microfibril), immunohistopathological quantification of the protein in skin and fibroblast culture, and examination of fibrillin synthesis, extracellular transport, and incorporation into the extracellular matrix (D. M. Milewicz, R.E.P., E. S. Crawford and P. H. Byers, manuscript in preparation) have demonstrated abnormalities of fibrillin metabolism in most patients. A portion of the complementary DNA encoding fibrillin has been cloned and mapped by in situ hybridization to chromosome 15. Here we report that the fibrillin gene is linked to the Marfan phenotype (theta = 0.00; logarithm of the odds (lod) = 3.9) and describe a de novo missense mutation in the fibrillin gene in two patients with sporadic disease. We thus implicate fibrillin as the protein defective in patients with the Marfan syndrome. | lld:pubmed |
| pubmed-article:1852208 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1852208 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1852208 | pubmed:language | eng | lld:pubmed |
| pubmed-article:1852208 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1852208 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:1852208 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1852208 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1852208 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:1852208 | pubmed:month | Jul | lld:pubmed |
| pubmed-article:1852208 | pubmed:issn | 0028-0836 | lld:pubmed |
| pubmed-article:1852208 | pubmed:author | pubmed-author:PyeritzR ERE | lld:pubmed |
| pubmed-article:1852208 | pubmed:author | pubmed-author:CuttingG RGR | lld:pubmed |
| pubmed-article:1852208 | pubmed:author | pubmed-author:HamoshAA | lld:pubmed |
| pubmed-article:1852208 | pubmed:author | pubmed-author:DietzH CHC | lld:pubmed |
| pubmed-article:1852208 | pubmed:author | pubmed-author:CurristinS... | lld:pubmed |
| pubmed-article:1852208 | pubmed:author | pubmed-author:SakaiL YLY | lld:pubmed |
| pubmed-article:1852208 | pubmed:author | pubmed-author:NanthakumarE... | lld:pubmed |
| pubmed-article:1852208 | pubmed:author | pubmed-author:MaslenC LCL | lld:pubmed |
| pubmed-article:1852208 | pubmed:author | pubmed-author:PuffenbergerE... | lld:pubmed |
| pubmed-article:1852208 | pubmed:author | pubmed-author:CorsonG MGM | lld:pubmed |
| pubmed-article:1852208 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:1852208 | pubmed:day | 25 | lld:pubmed |
| pubmed-article:1852208 | pubmed:volume | 352 | lld:pubmed |
| pubmed-article:1852208 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:1852208 | pubmed:authorsComplete | N | lld:pubmed |
| pubmed-article:1852208 | pubmed:pagination | 337-9 | lld:pubmed |
| pubmed-article:1852208 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
| pubmed-article:1852208 | pubmed:meshHeading | pubmed-meshheading:1852208-... | lld:pubmed |
| pubmed-article:1852208 | pubmed:meshHeading | pubmed-meshheading:1852208-... | lld:pubmed |
| pubmed-article:1852208 | pubmed:meshHeading | pubmed-meshheading:1852208-... | lld:pubmed |
| pubmed-article:1852208 | pubmed:meshHeading | pubmed-meshheading:1852208-... | lld:pubmed |
| pubmed-article:1852208 | pubmed:meshHeading | pubmed-meshheading:1852208-... | lld:pubmed |
| pubmed-article:1852208 | pubmed:meshHeading | pubmed-meshheading:1852208-... | lld:pubmed |
| pubmed-article:1852208 | pubmed:meshHeading | pubmed-meshheading:1852208-... | lld:pubmed |
| pubmed-article:1852208 | pubmed:meshHeading | pubmed-meshheading:1852208-... | lld:pubmed |
| pubmed-article:1852208 | pubmed:meshHeading | pubmed-meshheading:1852208-... | lld:pubmed |
| pubmed-article:1852208 | pubmed:year | 1991 | lld:pubmed |
| pubmed-article:1852208 | pubmed:articleTitle | Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. | lld:pubmed |
| pubmed-article:1852208 | pubmed:affiliation | Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205. | lld:pubmed |
| pubmed-article:1852208 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:1852208 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| pubmed-article:1852208 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| entrez-gene:2200 | entrezgene:pubmed | pubmed-article:1852208 | lld:entrezgene |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1852208 | lld:pubmed |
