| http://purl.uniprot.org/citations/29514032 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/29514032 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/29514032 | http://www.w3.org/2000/01/rdf-schema#comment | "Familial erythrocytosis with elevated erythropoietin levels is frequently caused by mutations in genes that regulate oxygen-dependent transcription of the gene encoding erythropoietin ( EPO). We identified a mutation in EPO that cosegregated with disease with a logarithm of the odds (LOD) score of 3.3 in a family with autosomal dominant erythrocytosis. This mutation, a single-nucleotide deletion (c.32delG), introduces a frameshift in exon 2 that interrupts translation of the main EPO messenger RNA (mRNA) transcript but initiates excess production of erythropoietin from what is normally a noncoding EPO mRNA transcribed from an alternative promoter located in intron 1. (Funded by the Gebert Rüf Foundation and others.)."xsd:string |
| http://purl.uniprot.org/citations/29514032 | http://purl.org/dc/terms/identifier | "doi:10.1056/nejmoa1709064"xsd:string |
| http://purl.uniprot.org/citations/29514032 | http://purl.org/dc/terms/identifier | "doi:10.1056/nejmoa1709064"xsd:string |
| http://purl.uniprot.org/citations/29514032 | http://purl.uniprot.org/core/author | "Sundan A."xsd:string |
| http://purl.uniprot.org/citations/29514032 | http://purl.uniprot.org/core/author | "Sundan A."xsd:string |
| http://purl.uniprot.org/citations/29514032 | http://purl.uniprot.org/core/author | "Lundberg P."xsd:string |
| http://purl.uniprot.org/citations/29514032 | http://purl.uniprot.org/core/author | "Lundberg P."xsd:string |
| http://purl.uniprot.org/citations/29514032 | http://purl.uniprot.org/core/author | "Skoda R.C."xsd:string |
| http://purl.uniprot.org/citations/29514032 | http://purl.uniprot.org/core/author | "Skoda R.C."xsd:string |
| http://purl.uniprot.org/citations/29514032 | http://purl.uniprot.org/core/author | "Nienhold R."xsd:string |
| http://purl.uniprot.org/citations/29514032 | http://purl.uniprot.org/core/author | "Nienhold R."xsd:string |
| http://purl.uniprot.org/citations/29514032 | http://purl.uniprot.org/core/author | "Torgersen M.L."xsd:string |
| http://purl.uniprot.org/citations/29514032 | http://purl.uniprot.org/core/author | "Torgersen M.L."xsd:string |
| http://purl.uniprot.org/citations/29514032 | http://purl.uniprot.org/core/author | "Waage A."xsd:string |
| http://purl.uniprot.org/citations/29514032 | http://purl.uniprot.org/core/author | "Waage A."xsd:string |
| http://purl.uniprot.org/citations/29514032 | http://purl.uniprot.org/core/author | "Zmajkovic J."xsd:string |
| http://purl.uniprot.org/citations/29514032 | http://purl.uniprot.org/core/author | "Zmajkovic J."xsd:string |
| http://purl.uniprot.org/citations/29514032 | http://purl.uniprot.org/core/date | "2018"xsd:gYear |
| http://purl.uniprot.org/citations/29514032 | http://purl.uniprot.org/core/date | "2018"xsd:gYear |
| http://purl.uniprot.org/citations/29514032 | http://purl.uniprot.org/core/name | "N. Engl. J. Med."xsd:string |
| http://purl.uniprot.org/citations/29514032 | http://purl.uniprot.org/core/name | "N. Engl. J. Med."xsd:string |
| http://purl.uniprot.org/citations/29514032 | http://purl.uniprot.org/core/pages | "924-930"xsd:string |
| http://purl.uniprot.org/citations/29514032 | http://purl.uniprot.org/core/pages | "924-930"xsd:string |