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Article

KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.

Human mutation - 1 Jan 2005

Massa Ornella, Iafusco Dario, D'Amato Elena, Gloyn Anna L, Hattersley Andrew T, Pasquino Bruno, Tonini Giorgio, Dammacco Francesco, Zanette Giorgio, Meschi Franco, Porzio Ottavia, Bottazzo Gianfranco, Crinó Antonino, Lorini Renata, Cerutti Franco, Vanelli Maurizio, Barbetti Fabrizio

Abstract excerpt

Permanent neonatal diabetes mellitus (PNDM) is a rare condition characterized by severe hyperglycemia constantly requiring insulin treatment from its onset. Complete deficiency of glucokinase (GCK) can cause PNDM; however, the genetic etiology is unknown in most PNDM patients. Recently, heterozyg...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Potassium Channels, Inwardly Rectifying

Source

Identifiers

PMID: 15580558
DOI: 10.1002/humu.20124

Genes

KCNJ11
GCK

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15580558-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.PMID 15580558Read ↗

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