| http://purl.uniprot.org/citations/1470163 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/1470163 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/1470163 | http://www.w3.org/2000/01/rdf-schema#comment | "A novel mutation Arg1131-->Gln in the catalytic loop of insulin receptor (IR) associated with insulin resistant diabetes was detected. A 56-year-old male with hyperinsulinemia (fasting IRI 92 microU/ml) showed moderate impairment in glucose tolerance (HbAlc 7.0%, fructosamine 258 mumol/l, fasting glucose 119 mg/dl, maximum value of blood glucose during 75 g OGTT 220 mg/dl). While insulin binding to erythrocytes IR was normal, the insulin-induced autophosphorylation of the patient's erythrocytes IR in vivo showed marked decrease, suggesting this patient had some defect in the kinase domain (exon 17-21) of IR. PCR-SSCP analysis of kinase domain with a genomic DNA obtained from the patient's leucocytes indicated the presence of some mutations in exon 19. Sequencing analysis in M13 revealed a heterozygous mutation at a position 1131 (CGG-->CAG) substituting Gln for Arg. Four people of patient's family analyzed are revealed to have an identical missense mutation at the same position with the patient."xsd:string |
| http://purl.uniprot.org/citations/1470163 | http://purl.uniprot.org/core/author | "Kasuga M."xsd:string |
| http://purl.uniprot.org/citations/1470163 | http://purl.uniprot.org/core/author | "Kasuga M."xsd:string |
| http://purl.uniprot.org/citations/1470163 | http://purl.uniprot.org/core/author | "Yonezawa K."xsd:string |
| http://purl.uniprot.org/citations/1470163 | http://purl.uniprot.org/core/author | "Yonezawa K."xsd:string |
| http://purl.uniprot.org/citations/1470163 | http://purl.uniprot.org/core/author | "Kishimoto M."xsd:string |
| http://purl.uniprot.org/citations/1470163 | http://purl.uniprot.org/core/author | "Kishimoto M."xsd:string |
| http://purl.uniprot.org/citations/1470163 | http://purl.uniprot.org/core/author | "Hagino H."xsd:string |
| http://purl.uniprot.org/citations/1470163 | http://purl.uniprot.org/core/author | "Hagino H."xsd:string |
| http://purl.uniprot.org/citations/1470163 | http://purl.uniprot.org/core/author | "Hashiramoto M."xsd:string |
| http://purl.uniprot.org/citations/1470163 | http://purl.uniprot.org/core/author | "Hashiramoto M."xsd:string |
| http://purl.uniprot.org/citations/1470163 | http://purl.uniprot.org/core/author | "Kazumi T."xsd:string |
| http://purl.uniprot.org/citations/1470163 | http://purl.uniprot.org/core/author | "Kazumi T."xsd:string |
| http://purl.uniprot.org/citations/1470163 | http://purl.uniprot.org/core/author | "Shii K."xsd:string |
| http://purl.uniprot.org/citations/1470163 | http://purl.uniprot.org/core/author | "Shii K."xsd:string |
| http://purl.uniprot.org/citations/1470163 | http://purl.uniprot.org/core/date | "1992"xsd:gYear |
| http://purl.uniprot.org/citations/1470163 | http://purl.uniprot.org/core/date | "1992"xsd:gYear |
| http://purl.uniprot.org/citations/1470163 | http://purl.uniprot.org/core/name | "Nihon Geka Gakkai Zasshi"xsd:string |
| http://purl.uniprot.org/citations/1470163 | http://purl.uniprot.org/core/name | "Nihon Geka Gakkai Zasshi"xsd:string |
| http://purl.uniprot.org/citations/1470163 | http://purl.uniprot.org/core/pages | "968-971"xsd:string |
| http://purl.uniprot.org/citations/1470163 | http://purl.uniprot.org/core/pages | "968-971"xsd:string |
| http://purl.uniprot.org/citations/1470163 | http://purl.uniprot.org/core/title | "Insulin receptor Arg1131-->Gln: a novel mutation in the catalytic loop of insulin receptor observed in insulin resistant diabetes."xsd:string |
| http://purl.uniprot.org/citations/1470163 | http://purl.uniprot.org/core/title | "Insulin receptor Arg1131-->Gln: a novel mutation in the catalytic loop of insulin receptor observed in insulin resistant diabetes."xsd:string |