| http://purl.uniprot.org/citations/9804357 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9804357 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9804357 | http://www.w3.org/2000/01/rdf-schema#comment | "We report novel keratin 5 and 14 gene mutations in four unrelated German families with the localized subtype of the dominantly inherited blistering disease epidermolysis bullosa simplex Weber-Cockayne (MIM# 131800). The mutations are located in the keratin 14 L12 linker region (D273G), the keratin 5 L12 linker (M327K and D328H), and the H1 domain of keratin 5 (P156L). These mutations add to those previously reported and provide further evidence of phenotype-genotype correlations in epidermolysis bullosa simplex subtypes. The above mutations in mildly affected patients underline the relevance of the keratin linker regions for the epidermolysis bullosa simplex Weber-Cockayne phenotype and keratin filament integrity. In addition, they confirm that the gene segments encoding the linker regions represent hotspots for mutations."xsd:string |
| http://purl.uniprot.org/citations/9804357 | http://purl.org/dc/terms/identifier | "doi:10.1046/j.1523-1747.1998.00374.x"xsd:string |
| http://purl.uniprot.org/citations/9804357 | http://purl.org/dc/terms/identifier | "doi:10.1046/j.1523-1747.1998.00374.x"xsd:string |
| http://purl.uniprot.org/citations/9804357 | http://purl.uniprot.org/core/author | "Kuester W."xsd:string |
| http://purl.uniprot.org/citations/9804357 | http://purl.uniprot.org/core/author | "Kuester W."xsd:string |
| http://purl.uniprot.org/citations/9804357 | http://purl.uniprot.org/core/author | "Bruckner-Tuderman L."xsd:string |
| http://purl.uniprot.org/citations/9804357 | http://purl.uniprot.org/core/author | "Bruckner-Tuderman L."xsd:string |
| http://purl.uniprot.org/citations/9804357 | http://purl.uniprot.org/core/author | "Korge B.P."xsd:string |
| http://purl.uniprot.org/citations/9804357 | http://purl.uniprot.org/core/author | "Korge B.P."xsd:string |
| http://purl.uniprot.org/citations/9804357 | http://purl.uniprot.org/core/author | "Mueller F.B."xsd:string |
| http://purl.uniprot.org/citations/9804357 | http://purl.uniprot.org/core/author | "Mueller F.B."xsd:string |
| http://purl.uniprot.org/citations/9804357 | http://purl.uniprot.org/core/date | "1998"xsd:gYear |
| http://purl.uniprot.org/citations/9804357 | http://purl.uniprot.org/core/date | "1998"xsd:gYear |
| http://purl.uniprot.org/citations/9804357 | http://purl.uniprot.org/core/name | "J. Invest. Dermatol."xsd:string |
| http://purl.uniprot.org/citations/9804357 | http://purl.uniprot.org/core/name | "J. Invest. Dermatol."xsd:string |
| http://purl.uniprot.org/citations/9804357 | http://purl.uniprot.org/core/pages | "900-902"xsd:string |
| http://purl.uniprot.org/citations/9804357 | http://purl.uniprot.org/core/pages | "900-902"xsd:string |
| http://purl.uniprot.org/citations/9804357 | http://purl.uniprot.org/core/title | "Novel K5 and K14 mutations in German patients with the Weber-Cockayne variant of epidermolysis bullosa simplex."xsd:string |
| http://purl.uniprot.org/citations/9804357 | http://purl.uniprot.org/core/title | "Novel K5 and K14 mutations in German patients with the Weber-Cockayne variant of epidermolysis bullosa simplex."xsd:string |
| http://purl.uniprot.org/citations/9804357 | http://purl.uniprot.org/core/volume | "111"xsd:string |
| http://purl.uniprot.org/citations/9804357 | http://purl.uniprot.org/core/volume | "111"xsd:string |
| http://purl.uniprot.org/citations/9804357 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/9804357 |
| http://purl.uniprot.org/citations/9804357 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/9804357 |