| http://purl.uniprot.org/citations/18622393 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/18622393 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/18622393 | http://www.w3.org/2000/01/rdf-schema#comment | "We have previously described individuals presenting with transient neonatal diabetes and showing a variable pattern of DNA hypomethylation at imprinted loci throughout the genome. We now report mutations in ZFP57, which encodes a zinc-finger transcription factor expressed in early development, in seven pedigrees with a shared pattern of mosaic hypomethylation and a conserved range of clinical features. This is the first description of a heritable global imprinting disorder that is compatible with life."xsd:string |
| http://purl.uniprot.org/citations/18622393 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng.187"xsd:string |
| http://purl.uniprot.org/citations/18622393 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng.187"xsd:string |
| http://purl.uniprot.org/citations/18622393 | http://purl.uniprot.org/core/author | "Ellard S."xsd:string |
| http://purl.uniprot.org/citations/18622393 | http://purl.uniprot.org/core/author | "Ellard S."xsd:string |
| http://purl.uniprot.org/citations/18622393 | http://purl.uniprot.org/core/author | "White H.E."xsd:string |
| http://purl.uniprot.org/citations/18622393 | http://purl.uniprot.org/core/author | "White H.E."xsd:string |
| http://purl.uniprot.org/citations/18622393 | http://purl.uniprot.org/core/author | "Temple I.K."xsd:string |
| http://purl.uniprot.org/citations/18622393 | http://purl.uniprot.org/core/author | "Temple I.K."xsd:string |
| http://purl.uniprot.org/citations/18622393 | http://purl.uniprot.org/core/author | "Firth H.V."xsd:string |
| http://purl.uniprot.org/citations/18622393 | http://purl.uniprot.org/core/author | "Firth H.V."xsd:string |
| http://purl.uniprot.org/citations/18622393 | http://purl.uniprot.org/core/author | "Hattersley A.T."xsd:string |
| http://purl.uniprot.org/citations/18622393 | http://purl.uniprot.org/core/author | "Hattersley A.T."xsd:string |
| http://purl.uniprot.org/citations/18622393 | http://purl.uniprot.org/core/author | "Acerini C.L."xsd:string |
| http://purl.uniprot.org/citations/18622393 | http://purl.uniprot.org/core/author | "Acerini C.L."xsd:string |
| http://purl.uniprot.org/citations/18622393 | http://purl.uniprot.org/core/author | "Goodship J.A."xsd:string |
| http://purl.uniprot.org/citations/18622393 | http://purl.uniprot.org/core/author | "Goodship J.A."xsd:string |
| http://purl.uniprot.org/citations/18622393 | http://purl.uniprot.org/core/author | "Robinson D.O."xsd:string |
| http://purl.uniprot.org/citations/18622393 | http://purl.uniprot.org/core/author | "Robinson D.O."xsd:string |
| http://purl.uniprot.org/citations/18622393 | http://purl.uniprot.org/core/author | "Oestergaard E."xsd:string |
| http://purl.uniprot.org/citations/18622393 | http://purl.uniprot.org/core/author | "Oestergaard E."xsd:string |
| http://purl.uniprot.org/citations/18622393 | http://purl.uniprot.org/core/author | "Boonen S.E."xsd:string |
| http://purl.uniprot.org/citations/18622393 | http://purl.uniprot.org/core/author | "Boonen S.E."xsd:string |