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Article

Human pancreas endocrine cell populations and activating ABCC8 mutations.

Hormone research in paediatrics - 1 Jan 2014

Busiah Kanetee, Verkarre Virginie, Cavé Hélène, Scharfmann Raphael, Polak Michel

Abstract excerpt

BACKGROUND/AIMS: Activating mutations in the ABCC8 gene encoding the KATP channel subunit SUR1 cause β-cell dysfunction with non-autoimmune diabetes mellitus in neonates or infants. We investigated whether activating ABCC8 mutations affect endocrine pancreas development. METHODS: We studied a male infant with compound heterozygous ABCC8 mutations (p.Arg826Trp/p.Ile93Thr) causing neonatal diabetes mellitus. He...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24941889
DOI: 10.1159/000360004

Genes

ABCC8
PCNA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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