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Article

Permanent neonatal diabetes caused by creation of an ectopic splice site within the INS gene.

PloS one - 1 Jan 2012

Garin Intza, Perez de Nanclares Guiomar, Gastaldo Elena, Harries Lorna W, Rubio-Cabezas Oscar, Castaño Luis

Abstract excerpt

BACKGROUND: The aim of this study was to characterize the genetic etiology in a patient who presented with permanent neonatal diabetes at 2 months of age. METHODOLOGY/PRINCIPAL FINDINGS: Regulatory elements and coding exons 2 and 3 of the INS gene were amplified and sequenced from genomic and complementary DNA samples. A novel heterozygous INS mutation within the terminal intron of the gene was identified in the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Protein Structure, Tertiary

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Source

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Identifiers

PMID: 22235272
DOI: 10.1371/journal.pone.0029205
PMCID: PMC3250427

Genes

INS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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