http://purl.uniprot.org/citations/12916015 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/12916015 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/12916015 | http://www.w3.org/2000/01/rdf-schema#comment | "Dyschromatosis symmetrica hereditaria (DSH) (also called "reticulate acropigmentation of Dohi") is a pigmentary genodermatosis of autosomal dominant inheritance characterized by a mixture of hyperpigmented and hypopigmented macules distributed on the dorsal aspects of the hands and feet. To determine the gene responsible for this disease, we performed a genomewide search in three families with DSH and mapped the DSH locus to chromosome 1q21.3. The mutations involved in causing DSH have been identified in the gene that encodes double-stranded RNA-specific adenosine deaminase (DSRAD) as the disease gene."xsd:string |
http://purl.uniprot.org/citations/12916015 | http://purl.org/dc/terms/identifier | "doi:10.1086/378209"xsd:string |
http://purl.uniprot.org/citations/12916015 | http://purl.org/dc/terms/identifier | "doi:10.1086/378209"xsd:string |
http://purl.uniprot.org/citations/12916015 | http://purl.uniprot.org/core/author | "Ito S."xsd:string |
http://purl.uniprot.org/citations/12916015 | http://purl.uniprot.org/core/author | "Ito S."xsd:string |
http://purl.uniprot.org/citations/12916015 | http://purl.uniprot.org/core/author | "Suzuki T."xsd:string |
http://purl.uniprot.org/citations/12916015 | http://purl.uniprot.org/core/author | "Suzuki T."xsd:string |
http://purl.uniprot.org/citations/12916015 | http://purl.uniprot.org/core/author | "Kono M."xsd:string |
http://purl.uniprot.org/citations/12916015 | http://purl.uniprot.org/core/author | "Kono M."xsd:string |
http://purl.uniprot.org/citations/12916015 | http://purl.uniprot.org/core/author | "Suzuki N."xsd:string |
http://purl.uniprot.org/citations/12916015 | http://purl.uniprot.org/core/author | "Suzuki N."xsd:string |
http://purl.uniprot.org/citations/12916015 | http://purl.uniprot.org/core/author | "Inagaki K."xsd:string |
http://purl.uniprot.org/citations/12916015 | http://purl.uniprot.org/core/author | "Inagaki K."xsd:string |
http://purl.uniprot.org/citations/12916015 | http://purl.uniprot.org/core/author | "Tomita Y."xsd:string |
http://purl.uniprot.org/citations/12916015 | http://purl.uniprot.org/core/author | "Tomita Y."xsd:string |
http://purl.uniprot.org/citations/12916015 | http://purl.uniprot.org/core/author | "Miyamura Y."xsd:string |
http://purl.uniprot.org/citations/12916015 | http://purl.uniprot.org/core/author | "Miyamura Y."xsd:string |
http://purl.uniprot.org/citations/12916015 | http://purl.uniprot.org/core/date | "2003"xsd:gYear |
http://purl.uniprot.org/citations/12916015 | http://purl.uniprot.org/core/date | "2003"xsd:gYear |
http://purl.uniprot.org/citations/12916015 | http://purl.uniprot.org/core/name | "Am. J. Hum. Genet."xsd:string |
http://purl.uniprot.org/citations/12916015 | http://purl.uniprot.org/core/name | "Am. J. Hum. Genet."xsd:string |
http://purl.uniprot.org/citations/12916015 | http://purl.uniprot.org/core/pages | "693-699"xsd:string |
http://purl.uniprot.org/citations/12916015 | http://purl.uniprot.org/core/pages | "693-699"xsd:string |