| http://purl.uniprot.org/citations/1601997 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/1601997 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/1601997 | http://www.w3.org/2000/01/rdf-schema#comment | "We have identified a 65-yr-old nonobese Japanese man with diabetes mellitus, fasting hyperinsulinemia (150-300 pM), and a reduced fasting C-peptide/insulin molar ratio of 2.5-3.0. Fasting hyperinsulinemia was also found in his son and daughter. Analysis of insulin isolated from the serum of the proband and his son by reverse-phase high performance liquid chromatography revealed a minor peak coeluting with human insulin and a major peak of proinsulin-like materials. The insulin gene of the patient was amplified by the polymerase chain reaction and the products were sequenced. A novel point mutation was identified in which guanine was replaced by thymine. The substitution gives rise to a new HindIII recognition site and results in the amino acid replacement of leucine for arginine at position 65. These results indicate that the amino-acid replacement prevents recognition of the C-peptide-A chain dibasic protease and results in an elevation of proinsulin-like materials in the circulation. Furthermore, in this family the proinsulin-like materials is due to a biosynthetic defect, inherited as an autosomal dominant trait. Rapid detection of this mutation can be accomplished by HindIII restriction enzyme mapping of polymerase chain reaction-generated DNA, which enables us to facilitate the diagnosis and screening."xsd:string |
| http://purl.uniprot.org/citations/1601997 | http://purl.org/dc/terms/identifier | "doi:10.1172/jci115795"xsd:string |
| http://purl.uniprot.org/citations/1601997 | http://purl.org/dc/terms/identifier | "doi:10.1172/jci115795"xsd:string |
| http://purl.uniprot.org/citations/1601997 | http://purl.uniprot.org/core/author | "Yano H."xsd:string |
| http://purl.uniprot.org/citations/1601997 | http://purl.uniprot.org/core/author | "Yano H."xsd:string |
| http://purl.uniprot.org/citations/1601997 | http://purl.uniprot.org/core/author | "Seino Y."xsd:string |
| http://purl.uniprot.org/citations/1601997 | http://purl.uniprot.org/core/author | "Seino Y."xsd:string |
| http://purl.uniprot.org/citations/1601997 | http://purl.uniprot.org/core/author | "Morimoto M."xsd:string |
| http://purl.uniprot.org/citations/1601997 | http://purl.uniprot.org/core/author | "Morimoto M."xsd:string |
| http://purl.uniprot.org/citations/1601997 | http://purl.uniprot.org/core/author | "Imura H."xsd:string |
| http://purl.uniprot.org/citations/1601997 | http://purl.uniprot.org/core/author | "Imura H."xsd:string |
| http://purl.uniprot.org/citations/1601997 | http://purl.uniprot.org/core/author | "Polonsky K.S."xsd:string |
| http://purl.uniprot.org/citations/1601997 | http://purl.uniprot.org/core/author | "Polonsky K.S."xsd:string |
| http://purl.uniprot.org/citations/1601997 | http://purl.uniprot.org/core/author | "Kitano N."xsd:string |
| http://purl.uniprot.org/citations/1601997 | http://purl.uniprot.org/core/author | "Kitano N."xsd:string |
| http://purl.uniprot.org/citations/1601997 | http://purl.uniprot.org/core/date | "1992"xsd:gYear |
| http://purl.uniprot.org/citations/1601997 | http://purl.uniprot.org/core/date | "1992"xsd:gYear |
| http://purl.uniprot.org/citations/1601997 | http://purl.uniprot.org/core/name | "J. Clin. Invest."xsd:string |
| http://purl.uniprot.org/citations/1601997 | http://purl.uniprot.org/core/name | "J. Clin. Invest."xsd:string |
| http://purl.uniprot.org/citations/1601997 | http://purl.uniprot.org/core/pages | "1902-1907"xsd:string |
| http://purl.uniprot.org/citations/1601997 | http://purl.uniprot.org/core/pages | "1902-1907"xsd:string |
| http://purl.uniprot.org/citations/1601997 | http://purl.uniprot.org/core/title | "A novel point mutation in the human insulin gene giving rise to hyperproinsulinemia (proinsulin Kyoto)."xsd:string |
| http://purl.uniprot.org/citations/1601997 | http://purl.uniprot.org/core/title | "A novel point mutation in the human insulin gene giving rise to hyperproinsulinemia (proinsulin Kyoto)."xsd:string |