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Article

Identification of two novel frameshift mutations in the KCNJ11 gene in two Italian patients affected by Congenital Hyperinsulinism of Infancy.

Experimental and molecular pathology - 1 Aug 2007

Biagiotti Laura, Proverbio Maria Carla, Bosio Laura, Gervasi Fabio, Rovida Ermanna, Cerioni Valeria, Bove Maddalena, Valin Paola Sogno, Albarello Luca, Zamproni Ilaria, Grassi Stefano, Doglioni Claudio, Mora Stefano, Chiumello Giuseppe, Biunno Ida

Abstract excerpt

Congenital Hyperinsulinism of Infancy (CHI) is a genetically heterogeneous disorder characterized by profound hypoglycemia related to inappropriate insulin secretion. Two histopathologically and genetically distinct groups are recognized among patients with CHI due to ATP-sensitive potassium chan...

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Source

Identifiers

PMID: 17316607
DOI: 10.1016/j.yexmp.2006.11.006

Genes

KCNJ11
ABCC8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17316607-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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