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http://purl.uniprot.org/citations/6312455http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/6312455http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/6312455http://www.w3.org/2000/01/rdf-schema#comment"Both alleles of the insulin gene of a patient with mild diabetes [maturity-onset-diabetes-of-the-young (MODY)-type syndrome] associated with hyperinsulinemia have been cloned, and the sequences have been determined. One allele contained a mutation (single nucleotide transition) in the coding sequence for the B chain at position 24 (TTC leads to TCC), resulting in the loss of a restriction enzyme (Mbo II) cleavage site in the gene. This mutation results in the substitution of serine for phenylalanine in a critically important region of the insulin molecule that is intimately involved in receptor binding. Both insulin alleles were of the alpha type and, aside from a single nucleotide deletion in the 5' region of the normal allele, their sequences were identical to those previously determined."xsd:string
http://purl.uniprot.org/citations/6312455http://purl.org/dc/terms/identifier"doi:10.1073/pnas.80.20.6366"xsd:string
http://purl.uniprot.org/citations/6312455http://purl.org/dc/terms/identifier"doi:10.1073/pnas.80.20.6366"xsd:string
http://purl.uniprot.org/citations/6312455http://purl.uniprot.org/core/author"Steiner D.F."xsd:string
http://purl.uniprot.org/citations/6312455http://purl.uniprot.org/core/author"Steiner D.F."xsd:string
http://purl.uniprot.org/citations/6312455http://purl.uniprot.org/core/author"Chan S.J."xsd:string
http://purl.uniprot.org/citations/6312455http://purl.uniprot.org/core/author"Chan S.J."xsd:string
http://purl.uniprot.org/citations/6312455http://purl.uniprot.org/core/author"Haneda M."xsd:string
http://purl.uniprot.org/citations/6312455http://purl.uniprot.org/core/author"Haneda M."xsd:string
http://purl.uniprot.org/citations/6312455http://purl.uniprot.org/core/author"Kwok S.C.M."xsd:string
http://purl.uniprot.org/citations/6312455http://purl.uniprot.org/core/author"Kwok S.C.M."xsd:string
http://purl.uniprot.org/citations/6312455http://purl.uniprot.org/core/author"Rubenstein A.H."xsd:string
http://purl.uniprot.org/citations/6312455http://purl.uniprot.org/core/author"Rubenstein A.H."xsd:string
http://purl.uniprot.org/citations/6312455http://purl.uniprot.org/core/date"1983"xsd:gYear
http://purl.uniprot.org/citations/6312455http://purl.uniprot.org/core/date"1983"xsd:gYear
http://purl.uniprot.org/citations/6312455http://purl.uniprot.org/core/name"Proc. Natl. Acad. Sci. U.S.A."xsd:string
http://purl.uniprot.org/citations/6312455http://purl.uniprot.org/core/name"Proc. Natl. Acad. Sci. U.S.A."xsd:string
http://purl.uniprot.org/citations/6312455http://purl.uniprot.org/core/pages"6366-6370"xsd:string
http://purl.uniprot.org/citations/6312455http://purl.uniprot.org/core/pages"6366-6370"xsd:string
http://purl.uniprot.org/citations/6312455http://purl.uniprot.org/core/title"Studies on mutant human insulin genes: identification and sequence analysis of a gene encoding [SerB24]insulin."xsd:string
http://purl.uniprot.org/citations/6312455http://purl.uniprot.org/core/title"Studies on mutant human insulin genes: identification and sequence analysis of a gene encoding [SerB24]insulin."xsd:string
http://purl.uniprot.org/citations/6312455http://purl.uniprot.org/core/volume"80"xsd:string
http://purl.uniprot.org/citations/6312455http://purl.uniprot.org/core/volume"80"xsd:string