| http://purl.uniprot.org/citations/10201536 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10201536 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10201536 | http://www.w3.org/2000/01/rdf-schema#comment | "Epidermolytic hyperkeratosis is characterized by tonofilament clumping, cytolysis, and blister formation in suprabasal keratinocytes. It has been shown that the tonofilament aggregates in these areas are composed of keratin 1 (K1) and keratin 10 (K10), and several K1 and K10 point mutations have been identified as the molecular basis of epidermolytic hyperkeratosis. In this report we identify a novel, single base pair substitution resulting in an amino acid exchange from tyrosine to serine at residue 14 within the conserved 1A region of K10 (Y14S). This A to C transversion in codon 160 was only present in the affected individual and was associated with a very severe disease phenotype. Our observations are in agreement with previous reports documenting that this tyrosine residue, located at the beginning of the rod domain of type I keratins, is particularly sensitive to amino acid substitutions, and that alterations in this residue can have deleterious effects on filament assembly and stability."xsd:string |
| http://purl.uniprot.org/citations/10201536 | http://purl.org/dc/terms/identifier | "doi:10.1046/j.1523-1747.1999.00557.x"xsd:string |
| http://purl.uniprot.org/citations/10201536 | http://purl.org/dc/terms/identifier | "doi:10.1046/j.1523-1747.1999.00557.x"xsd:string |
| http://purl.uniprot.org/citations/10201536 | http://purl.uniprot.org/core/author | "Huber M."xsd:string |
| http://purl.uniprot.org/citations/10201536 | http://purl.uniprot.org/core/author | "Huber M."xsd:string |
| http://purl.uniprot.org/citations/10201536 | http://purl.uniprot.org/core/author | "Hohl D."xsd:string |
| http://purl.uniprot.org/citations/10201536 | http://purl.uniprot.org/core/author | "Hohl D."xsd:string |
| http://purl.uniprot.org/citations/10201536 | http://purl.uniprot.org/core/author | "Roop D.R."xsd:string |
| http://purl.uniprot.org/citations/10201536 | http://purl.uniprot.org/core/author | "Roop D.R."xsd:string |
| http://purl.uniprot.org/citations/10201536 | http://purl.uniprot.org/core/author | "Anton-Lamprecht I."xsd:string |
| http://purl.uniprot.org/citations/10201536 | http://purl.uniprot.org/core/author | "Anton-Lamprecht I."xsd:string |
| http://purl.uniprot.org/citations/10201536 | http://purl.uniprot.org/core/author | "Rothnagel J.A."xsd:string |
| http://purl.uniprot.org/citations/10201536 | http://purl.uniprot.org/core/author | "Rothnagel J.A."xsd:string |
| http://purl.uniprot.org/citations/10201536 | http://purl.uniprot.org/core/author | "Arin M.J."xsd:string |
| http://purl.uniprot.org/citations/10201536 | http://purl.uniprot.org/core/author | "Arin M.J."xsd:string |
| http://purl.uniprot.org/citations/10201536 | http://purl.uniprot.org/core/author | "Kurze G."xsd:string |
| http://purl.uniprot.org/citations/10201536 | http://purl.uniprot.org/core/author | "Kurze G."xsd:string |
| http://purl.uniprot.org/citations/10201536 | http://purl.uniprot.org/core/author | "Longley M.A."xsd:string |
| http://purl.uniprot.org/citations/10201536 | http://purl.uniprot.org/core/author | "Longley M.A."xsd:string |
| http://purl.uniprot.org/citations/10201536 | http://purl.uniprot.org/core/date | "1999"xsd:gYear |
| http://purl.uniprot.org/citations/10201536 | http://purl.uniprot.org/core/date | "1999"xsd:gYear |
| http://purl.uniprot.org/citations/10201536 | http://purl.uniprot.org/core/name | "J. Invest. Dermatol."xsd:string |
| http://purl.uniprot.org/citations/10201536 | http://purl.uniprot.org/core/name | "J. Invest. Dermatol."xsd:string |