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- W2088893963 abstract "Mutations within the human proinsulin gene ( INS ) have been reported to cause neonatal, maturity onset diabetes of the young (MODY), and antibody-negative idiopathic type 1 diabetes (1–3). However, because the expression of maternally or paternally transmitted INS-IGF2 alleles is different as a result of selective methylation (imprinting) (4), we surmised that the effect of INS mutations may depend on the origin of the mutated allele.To verify this hypothesis, pairs comprising an affected child and parent carrying the same heterozygous INS mutation were studied. A literature search was performed and yielded eight relevant articles reporting heterozygous INS mutations in neonatal, MODY, or antibody-negative type 1 diabetes (supplementary Table 1, available in an online appendix at http://care.diabetesjournals.org/cgi/content/full/dc10-1142/DC1). We also included an unpublished case …" @default.
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- W2088893963 date "2010-12-29" @default.
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- W2088893963 title "Paternally Inherited Proinsulin Mutations May Result in Earlier Onset of Monogenic Diabetes Mutation Identity Effect in Monogenic Diabetes" @default.
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- W2088893963 doi "https://doi.org/10.2337/dc10-1142" @default.
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