| http://purl.uniprot.org/citations/17949296 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/17949296 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/17949296 | http://www.w3.org/2000/01/rdf-schema#comment | "Herein we report the results of mutation analysis of the ATP7B gene in a group of 134 Wilson disease (WD) families (268 chromosomes) prevalently of Italian origin. Using the SSCP and sequencing methods we identified 71 disease-causing mutations. Twenty-four were novel, while 19 more mutations already described, were identified in new populations in this study. A known mutation G591D showed a regional distribution, since it was only detected in 38.5% of the analyzed chromosomes in WD patients originating from Apulia, a region of South Italy. Detection of new mutations in the ATP7B gene increases our capability of molecular analysis that is essential for early diagnosis and treatment of WD."xsd:string |
| http://purl.uniprot.org/citations/17949296 | http://purl.org/dc/terms/identifier | "doi:10.1089/gte.2007.0015"xsd:string |
| http://purl.uniprot.org/citations/17949296 | http://purl.org/dc/terms/identifier | "doi:10.1089/gte.2007.0015"xsd:string |
| http://purl.uniprot.org/citations/17949296 | http://purl.uniprot.org/core/author | "Cao A."xsd:string |
| http://purl.uniprot.org/citations/17949296 | http://purl.uniprot.org/core/author | "Cao A."xsd:string |
| http://purl.uniprot.org/citations/17949296 | http://purl.uniprot.org/core/author | "Zancan L."xsd:string |
| http://purl.uniprot.org/citations/17949296 | http://purl.uniprot.org/core/author | "Zancan L."xsd:string |
| http://purl.uniprot.org/citations/17949296 | http://purl.uniprot.org/core/author | "Vajro P."xsd:string |
| http://purl.uniprot.org/citations/17949296 | http://purl.uniprot.org/core/author | "Vajro P."xsd:string |
| http://purl.uniprot.org/citations/17949296 | http://purl.uniprot.org/core/author | "Barbera C."xsd:string |
| http://purl.uniprot.org/citations/17949296 | http://purl.uniprot.org/core/author | "Barbera C."xsd:string |
| http://purl.uniprot.org/citations/17949296 | http://purl.uniprot.org/core/author | "De Virgiliis S."xsd:string |
| http://purl.uniprot.org/citations/17949296 | http://purl.uniprot.org/core/author | "De Virgiliis S."xsd:string |
| http://purl.uniprot.org/citations/17949296 | http://purl.uniprot.org/core/author | "Dessi V."xsd:string |
| http://purl.uniprot.org/citations/17949296 | http://purl.uniprot.org/core/author | "Dessi V."xsd:string |
| http://purl.uniprot.org/citations/17949296 | http://purl.uniprot.org/core/author | "Farci A.M."xsd:string |
| http://purl.uniprot.org/citations/17949296 | http://purl.uniprot.org/core/author | "Farci A.M."xsd:string |
| http://purl.uniprot.org/citations/17949296 | http://purl.uniprot.org/core/author | "Giacchino R."xsd:string |
| http://purl.uniprot.org/citations/17949296 | http://purl.uniprot.org/core/author | "Giacchino R."xsd:string |
| http://purl.uniprot.org/citations/17949296 | http://purl.uniprot.org/core/author | "Incollu S."xsd:string |
| http://purl.uniprot.org/citations/17949296 | http://purl.uniprot.org/core/author | "Incollu S."xsd:string |
| http://purl.uniprot.org/citations/17949296 | http://purl.uniprot.org/core/author | "Iorio R."xsd:string |
| http://purl.uniprot.org/citations/17949296 | http://purl.uniprot.org/core/author | "Iorio R."xsd:string |