http://purl.uniprot.org/citations/25336012 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/25336012 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/25336012 | http://www.w3.org/2000/01/rdf-schema#comment | "Dubin-Johnson syndrome (DJS) is an autosomal recessive inherited disorder characterized by conjugated hyperbilirubinemia. Neonatal-onset DJS is rare. It is caused by dysfunction of adenosine triphosphate-binding cassette, sub-family C, member 2 (ABCC2). We found a novel compound heterozygous mutation of DJS-related gene: W709R (T2145C): a missense mutation in exon 17, and R768W (C2302T), a missense mutation in exon 18. Serum diglucuronosyl bilirubin/monoglucuronosyl bilirubin ratio was high. ABCC2 may excrete diglucuronosyl bilirubin preferentially over monoglucuronosyl bilirubin."xsd:string |
http://purl.uniprot.org/citations/25336012 | http://purl.org/dc/terms/identifier | "doi:10.1111/ped.12404"xsd:string |
http://purl.uniprot.org/citations/25336012 | http://purl.org/dc/terms/identifier | "doi:10.1111/ped.12404"xsd:string |
http://purl.uniprot.org/citations/25336012 | http://purl.uniprot.org/core/author | "Kondo S."xsd:string |
http://purl.uniprot.org/citations/25336012 | http://purl.uniprot.org/core/author | "Kondo S."xsd:string |
http://purl.uniprot.org/citations/25336012 | http://purl.uniprot.org/core/author | "Okada H."xsd:string |
http://purl.uniprot.org/citations/25336012 | http://purl.uniprot.org/core/author | "Okada H."xsd:string |
http://purl.uniprot.org/citations/25336012 | http://purl.uniprot.org/core/author | "Itoh S."xsd:string |
http://purl.uniprot.org/citations/25336012 | http://purl.uniprot.org/core/author | "Itoh S."xsd:string |
http://purl.uniprot.org/citations/25336012 | http://purl.uniprot.org/core/author | "Hirota T."xsd:string |
http://purl.uniprot.org/citations/25336012 | http://purl.uniprot.org/core/author | "Hirota T."xsd:string |
http://purl.uniprot.org/citations/25336012 | http://purl.uniprot.org/core/author | "Iwase T."xsd:string |
http://purl.uniprot.org/citations/25336012 | http://purl.uniprot.org/core/author | "Iwase T."xsd:string |
http://purl.uniprot.org/citations/25336012 | http://purl.uniprot.org/core/author | "Kusaka T."xsd:string |
http://purl.uniprot.org/citations/25336012 | http://purl.uniprot.org/core/author | "Kusaka T."xsd:string |
http://purl.uniprot.org/citations/25336012 | http://purl.uniprot.org/core/author | "Ieiri I."xsd:string |
http://purl.uniprot.org/citations/25336012 | http://purl.uniprot.org/core/author | "Ieiri I."xsd:string |
http://purl.uniprot.org/citations/25336012 | http://purl.uniprot.org/core/author | "Fuke N."xsd:string |
http://purl.uniprot.org/citations/25336012 | http://purl.uniprot.org/core/author | "Fuke N."xsd:string |
http://purl.uniprot.org/citations/25336012 | http://purl.uniprot.org/core/author | "Kunikata J."xsd:string |
http://purl.uniprot.org/citations/25336012 | http://purl.uniprot.org/core/author | "Kunikata J."xsd:string |
http://purl.uniprot.org/citations/25336012 | http://purl.uniprot.org/core/author | "Nan W."xsd:string |
http://purl.uniprot.org/citations/25336012 | http://purl.uniprot.org/core/author | "Nan W."xsd:string |