| http://purl.uniprot.org/citations/26479991 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/26479991 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/26479991 | http://www.w3.org/2000/01/rdf-schema#comment | "We report a term male infant born to parents of Danish descent, who on the second day of life developed jaundice peaking at 67 hours and decreasing on applied double-sided phototherapy. In the weeks following, the infant showed signs of ongoing hemolysis. Laboratory tests showed very low glucose-6-phosphate dehydrogenase (G6PD) enzymatic activity, and sequencing of the G6PD gene revealed a previously uncharacterized missense mutation c. 592 C>A (Arg198Ser). Oral DNA from the infant had the same G6PD mutation, suggesting a spontaneous maternal germline mutation as the mutation was not observed in leukocytes from the mother."xsd:string |
| http://purl.uniprot.org/citations/26479991 | http://purl.org/dc/terms/identifier | "doi:10.1097/mph.0000000000000435"xsd:string |
| http://purl.uniprot.org/citations/26479991 | http://purl.org/dc/terms/identifier | "doi:10.1097/mph.0000000000000435"xsd:string |
| http://purl.uniprot.org/citations/26479991 | http://purl.uniprot.org/core/author | "Petersen J."xsd:string |
| http://purl.uniprot.org/citations/26479991 | http://purl.uniprot.org/core/author | "Petersen J."xsd:string |
| http://purl.uniprot.org/citations/26479991 | http://purl.uniprot.org/core/author | "Knabe N."xsd:string |
| http://purl.uniprot.org/citations/26479991 | http://purl.uniprot.org/core/author | "Knabe N."xsd:string |
| http://purl.uniprot.org/citations/26479991 | http://purl.uniprot.org/core/author | "Birgens H."xsd:string |
| http://purl.uniprot.org/citations/26479991 | http://purl.uniprot.org/core/author | "Birgens H."xsd:string |
| http://purl.uniprot.org/citations/26479991 | http://purl.uniprot.org/core/author | "Lausen B."xsd:string |
| http://purl.uniprot.org/citations/26479991 | http://purl.uniprot.org/core/author | "Lausen B."xsd:string |
| http://purl.uniprot.org/citations/26479991 | http://purl.uniprot.org/core/author | "Warny M."xsd:string |
| http://purl.uniprot.org/citations/26479991 | http://purl.uniprot.org/core/author | "Warny M."xsd:string |
| http://purl.uniprot.org/citations/26479991 | http://purl.uniprot.org/core/date | "2015"xsd:gYear |
| http://purl.uniprot.org/citations/26479991 | http://purl.uniprot.org/core/date | "2015"xsd:gYear |
| http://purl.uniprot.org/citations/26479991 | http://purl.uniprot.org/core/name | "J. Pediatr. Hematol. Oncol."xsd:string |
| http://purl.uniprot.org/citations/26479991 | http://purl.uniprot.org/core/name | "J. Pediatr. Hematol. Oncol."xsd:string |
| http://purl.uniprot.org/citations/26479991 | http://purl.uniprot.org/core/pages | "E497-E499"xsd:string |
| http://purl.uniprot.org/citations/26479991 | http://purl.uniprot.org/core/pages | "E497-E499"xsd:string |
| http://purl.uniprot.org/citations/26479991 | http://purl.uniprot.org/core/title | "Severe G6PD Deficiency Due to a New Missense Mutation in an Infant of Northern European Descent."xsd:string |
| http://purl.uniprot.org/citations/26479991 | http://purl.uniprot.org/core/title | "Severe G6PD Deficiency Due to a New Missense Mutation in an Infant of Northern European Descent."xsd:string |
| http://purl.uniprot.org/citations/26479991 | http://purl.uniprot.org/core/volume | "37"xsd:string |
| http://purl.uniprot.org/citations/26479991 | http://purl.uniprot.org/core/volume | "37"xsd:string |