| pubmed-article:1720261 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:1720261 | lifeskim:mentions | umls-concept:C0015576 | lld:lifeskim |
| pubmed-article:1720261 | lifeskim:mentions | umls-concept:C0022564 | lld:lifeskim |
| pubmed-article:1720261 | lifeskim:mentions | umls-concept:C0079298 | lld:lifeskim |
| pubmed-article:1720261 | lifeskim:mentions | umls-concept:C1517478 | lld:lifeskim |
| pubmed-article:1720261 | lifeskim:mentions | umls-concept:C0332120 | lld:lifeskim |
| pubmed-article:1720261 | pubmed:issue | 5035 | lld:pubmed |
| pubmed-article:1720261 | pubmed:dateCreated | 1991-12-27 | lld:pubmed |
| pubmed-article:1720261 | pubmed:abstractText | Epidermolysis bullosa simplex (EBS) is characterized by skin blistering due to basal keratinocyte fragility. In one family studied, inheritance of EBS is linked to the gene encoding keratin 14, and a thymine to cytosine mutation in exon 6 of keratin 14 has introduced a proline in the middle of an alpha-helical region. In a second family, inheritance of EBS is linked to loci that map near the keratin 5 gene. These data indicate that abnormalities of either of the components of the keratin intermediate filament heterodipolymer can impair the mechanical stability of these epithelial cells. | lld:pubmed |
| pubmed-article:1720261 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1720261 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1720261 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1720261 | pubmed:language | eng | lld:pubmed |
| pubmed-article:1720261 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1720261 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:1720261 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1720261 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1720261 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:1720261 | pubmed:month | Nov | lld:pubmed |
| pubmed-article:1720261 | pubmed:issn | 0036-8075 | lld:pubmed |
| pubmed-article:1720261 | pubmed:author | pubmed-author:EpsteinE... | lld:pubmed |
| pubmed-article:1720261 | pubmed:author | pubmed-author:BonifasJ MJM | lld:pubmed |
| pubmed-article:1720261 | pubmed:author | pubmed-author:RothmanA LAL | lld:pubmed |
| pubmed-article:1720261 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:1720261 | pubmed:day | 22 | lld:pubmed |
| pubmed-article:1720261 | pubmed:volume | 254 | lld:pubmed |
| pubmed-article:1720261 | pubmed:geneSymbol | K5 | lld:pubmed |
| pubmed-article:1720261 | pubmed:geneSymbol | K14 | lld:pubmed |
| pubmed-article:1720261 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:1720261 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:1720261 | pubmed:pagination | 1202-5 | lld:pubmed |
| pubmed-article:1720261 | pubmed:dateRevised | 2010-11-18 | lld:pubmed |
| pubmed-article:1720261 | pubmed:meshHeading | pubmed-meshheading:1720261-... | lld:pubmed |
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| pubmed-article:1720261 | pubmed:meshHeading | pubmed-meshheading:1720261-... | lld:pubmed |
| pubmed-article:1720261 | pubmed:year | 1991 | lld:pubmed |
| pubmed-article:1720261 | pubmed:articleTitle | Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities. | lld:pubmed |
| pubmed-article:1720261 | pubmed:affiliation | Department of Dermatology, San Francisco General Hospital, University of California 94110. | lld:pubmed |
| pubmed-article:1720261 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:1720261 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
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