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Article

Trafficking-competent and trafficking-defective KCNJ2 mutations in Andersen syndrome.

Human mutation - 1 Apr 2006

Ballester Leomar Y, Benson D Woodrow, Wong Brenda, Law Ian H, Mathews Katherine D, Vanoye Carlos G, George Alfred L

Abstract excerpt

Mutations in KCNJ2, the gene encoding the human inward rectifier potassium channel Kir2.1, have been identified in Andersen syndrome (or Andersen-Tawil syndrome), an inherited disorder characterized by periodic paralysis, cardiac arrhythmias, and dysmorphic features. We identified and characterized two novel KCNJ2 mutations (c.220A>G/p.T74A and c.443G>C/p.G144A) associated with Andersen syndrome. Heterologous...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16541386
DOI: 10.1002/humu.9418

Genes

KCNJ2

Variants

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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Trafficking-competent and trafficking-defective KCNJ2 mutations in Andersen syndrome.PMID 16541386Read ↗

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