| http://purl.uniprot.org/citations/12413008 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12413008 | http://www.w3.org/2000/01/rdf-schema#comment | "A 52-year-old woman with early-onset diabetes mellitus, severe diabetic retinopathy, and a family history of a dominant inheritance pattern was referred to our hospital. Direct sequencing revealed a novel mutation in the HNF-4alpha gene (R244Q). The position of the mutation in the amino-acid sequence of the gene is well conserved among species and transcriptional activity of the mutant gene was significantly reduced. Therefore, a diagnosis of maturity-onset diabetes of the young (MODY)-1 was made. Genetic testing enabled early diagnosis of diabetes in the patient's 20-year-old daughter, which we consider to be important for the prevention of diabetic complications."xsd:string |
| http://purl.uniprot.org/citations/12413008 | http://purl.org/dc/terms/identifier | "doi:10.2169/internalmedicine.41.848"xsd:string |
| http://purl.uniprot.org/citations/12413008 | http://purl.uniprot.org/core/author | "Kimura S."xsd:string |
| http://purl.uniprot.org/citations/12413008 | http://purl.uniprot.org/core/author | "Hara K."xsd:string |
| http://purl.uniprot.org/citations/12413008 | http://purl.uniprot.org/core/author | "Tsukamoto K."xsd:string |
| http://purl.uniprot.org/citations/12413008 | http://purl.uniprot.org/core/author | "Yamagata K."xsd:string |
| http://purl.uniprot.org/citations/12413008 | http://purl.uniprot.org/core/author | "Kadowaki T."xsd:string |
| http://purl.uniprot.org/citations/12413008 | http://purl.uniprot.org/core/author | "Noda M."xsd:string |
| http://purl.uniprot.org/citations/12413008 | http://purl.uniprot.org/core/author | "Yamauchi T."xsd:string |
| http://purl.uniprot.org/citations/12413008 | http://purl.uniprot.org/core/author | "Matsuzawa Y."xsd:string |
| http://purl.uniprot.org/citations/12413008 | http://purl.uniprot.org/core/author | "Akanuma Y."xsd:string |
| http://purl.uniprot.org/citations/12413008 | http://purl.uniprot.org/core/author | "Kadowaki H."xsd:string |
| http://purl.uniprot.org/citations/12413008 | http://purl.uniprot.org/core/author | "Tobe K."xsd:string |
| http://purl.uniprot.org/citations/12413008 | http://purl.uniprot.org/core/author | "Waki H."xsd:string |
| http://purl.uniprot.org/citations/12413008 | http://purl.uniprot.org/core/author | "Nagamatsu S."xsd:string |
| http://purl.uniprot.org/citations/12413008 | http://purl.uniprot.org/core/author | "Satou H."xsd:string |
| http://purl.uniprot.org/citations/12413008 | http://purl.uniprot.org/core/date | "2002"xsd:gYear |
| http://purl.uniprot.org/citations/12413008 | http://purl.uniprot.org/core/name | "Intern Med"xsd:string |
| http://purl.uniprot.org/citations/12413008 | http://purl.uniprot.org/core/pages | "848-852"xsd:string |
| http://purl.uniprot.org/citations/12413008 | http://purl.uniprot.org/core/title | "Maturity-onset diabetes of the young resulting from a novel mutation in the HNF-4alpha gene."xsd:string |
| http://purl.uniprot.org/citations/12413008 | http://purl.uniprot.org/core/volume | "41"xsd:string |
| http://purl.uniprot.org/citations/12413008 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/12413008 |
| http://purl.uniprot.org/citations/12413008 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/12413008 |
| http://purl.uniprot.org/uniprot/#_B9VVT8-mappedCitation-12413008 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/12413008 |