Original paper
In vivo and in vitro functional characterization of Andersen's syndrome mutations
Abstract
The inward rectifier K + channel Kir2.1 carries all Andersen's syndrome mutations identified to date. Patients exhibit symptoms of periodic paralysis, cardiac dysrhythmia and multiple dysmorphic features. Here, we report the clinical manifestations found in three families with Andersen's syndrome. Molecular genetics analysis identified two novel missense mutations in the KCNJ2 gene leading to amino acid changes C154F and T309I of the Kir2.1 open...
Paper Details
Title
In vivo and in vitro functional characterization of Andersen's syndrome mutations
Published Date
Jun 15, 2005
Journal
Volume
565
Issue
3
Pages
731 - 741
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Notes
History