| http://purl.uniprot.org/citations/7526933 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/7526933 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/7526933 | http://www.w3.org/2000/01/rdf-schema#comment | "Epidermolysis bullosa simplex (EBS) is a group of epidermal blistering diseases almost invariably transmitted as a dominant trait, which has recently been shown to arise from mutations in keratins 14 and 5 (K14 and K5). We describe a family with recessive EBS in which the disease is tightly linked to the substitution of the highly conserved glutamic acid-144 to alanine in the first helical segment of the rod domain of keratin 14. In contrast, linkage with keratin 5 was excluded. The loss of an ionic interaction with keratin 5 is likely to affect K14-K5 heterodimer formation. Our data suggest that this mutation underlies EBS in our family, and that mutations in keratin genes may impair the mechanical integrity of basal keratinocytes in a recessive as well as dominant fashion."xsd:string |
| http://purl.uniprot.org/citations/7526933 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng0493-327"xsd:string |
| http://purl.uniprot.org/citations/7526933 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng0493-327"xsd:string |
| http://purl.uniprot.org/citations/7526933 | http://purl.uniprot.org/core/author | "Goossens M."xsd:string |
| http://purl.uniprot.org/citations/7526933 | http://purl.uniprot.org/core/author | "Goossens M."xsd:string |
| http://purl.uniprot.org/citations/7526933 | http://purl.uniprot.org/core/author | "Hilal L."xsd:string |
| http://purl.uniprot.org/citations/7526933 | http://purl.uniprot.org/core/author | "Hilal L."xsd:string |
| http://purl.uniprot.org/citations/7526933 | http://purl.uniprot.org/core/author | "Rochat A."xsd:string |
| http://purl.uniprot.org/citations/7526933 | http://purl.uniprot.org/core/author | "Rochat A."xsd:string |
| http://purl.uniprot.org/citations/7526933 | http://purl.uniprot.org/core/author | "Hovnanian A."xsd:string |
| http://purl.uniprot.org/citations/7526933 | http://purl.uniprot.org/core/author | "Hovnanian A."xsd:string |
| http://purl.uniprot.org/citations/7526933 | http://purl.uniprot.org/core/author | "Barrandon Y."xsd:string |
| http://purl.uniprot.org/citations/7526933 | http://purl.uniprot.org/core/author | "Barrandon Y."xsd:string |
| http://purl.uniprot.org/citations/7526933 | http://purl.uniprot.org/core/author | "Prost C."xsd:string |
| http://purl.uniprot.org/citations/7526933 | http://purl.uniprot.org/core/author | "Prost C."xsd:string |
| http://purl.uniprot.org/citations/7526933 | http://purl.uniprot.org/core/author | "Pollack E."xsd:string |
| http://purl.uniprot.org/citations/7526933 | http://purl.uniprot.org/core/author | "Pollack E."xsd:string |
| http://purl.uniprot.org/citations/7526933 | http://purl.uniprot.org/core/date | "1993"xsd:gYear |
| http://purl.uniprot.org/citations/7526933 | http://purl.uniprot.org/core/date | "1993"xsd:gYear |
| http://purl.uniprot.org/citations/7526933 | http://purl.uniprot.org/core/name | "Nat. Genet."xsd:string |
| http://purl.uniprot.org/citations/7526933 | http://purl.uniprot.org/core/name | "Nat. Genet."xsd:string |
| http://purl.uniprot.org/citations/7526933 | http://purl.uniprot.org/core/pages | "327-331"xsd:string |
| http://purl.uniprot.org/citations/7526933 | http://purl.uniprot.org/core/pages | "327-331"xsd:string |