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Article

Interaction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms.

Human molecular genetics - 15 Mar 2010

Männikkö Roope, Jefferies Craig, Flanagan Sarah E, Hattersley Andrew, Ellard Sian, Ashcroft Frances M

Abstract excerpt

ATP-sensitive potassium (K(ATP)) channels regulate insulin secretion from pancreatic beta-cells. Gain-of-function mutations in the genes encoding the Kir6.2 and SUR1 subunits of this channel cause neonatal diabetes. We report two novel mutations on the same haplotype (cis), F60Y and V64L, in the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Potassium Channels, Inwardly Rectifying

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Source

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Identifiers

PMID: 20022885
DOI: 10.1093/hmg/ddp554
PMCID: PMC2830823

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-20022885-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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