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Article

Allele-specific recognition of the 3' splice site of INS intron 1.

Human genetics - 1 Oct 2010

Kralovicova Jana, Vorechovsky Igor

Abstract excerpt

Genetic predisposition to type 1 diabetes (T1D) has been associated with a chromosome 11 locus centered on the proinsulin gene (INS) and with differential steady-state levels of INS RNA from T1D-predisposing and -protective haplotypes. Here, we show that the haplotype-specific expression is determined by INS variants that control the splicing efficiency of intron 1. The adenine allele at IVS1-6 (rs689), which...

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Source

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Identifiers

PMID: 20628762
DOI: 10.1007/s00439-010-0860-1
PMCID: PMC2939332

Genes

INS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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