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rdf:type |
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lifeskim:mentions |
umls-concept:C0005553,
umls-concept:C0026882,
umls-concept:C0205314,
umls-concept:C0233577,
umls-concept:C0332281,
umls-concept:C0679622,
umls-concept:C1416584,
umls-concept:C1515568,
umls-concept:C1521991,
umls-concept:C1563715,
umls-concept:C1631597,
umls-concept:C1880022
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pubmed:issue |
1
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pubmed:dateCreated |
2011-2-17
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pubmed:abstractText |
Mutations in KCNJ2, the gene encoding the human inward rectifier potassium channel Kir2.1 (IK1 or IKir2.1), have been identified in Andersen-Tawil syndrome. Andersen-Tawil syndrome is a multisystem inherited disease exhibiting periodic paralysis, cardiac arrhythmias, and dysmorphic features at times mimicking catecholaminergic polymorphic ventricular tachycardia.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Feb
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pubmed:issn |
1942-3268
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
4
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
51-7
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pubmed:dateRevised |
2011-10-20
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pubmed:meshHeading |
pubmed-meshheading:21148745-Amino Acid Sequence,
pubmed-meshheading:21148745-Amino Acid Substitution,
pubmed-meshheading:21148745-Andersen Syndrome,
pubmed-meshheading:21148745-Arrhythmias, Cardiac,
pubmed-meshheading:21148745-Base Sequence,
pubmed-meshheading:21148745-Biophysical Phenomena,
pubmed-meshheading:21148745-Cell Line,
pubmed-meshheading:21148745-Child,
pubmed-meshheading:21148745-DNA Mutational Analysis,
pubmed-meshheading:21148745-Female,
pubmed-meshheading:21148745-Flecainide,
pubmed-meshheading:21148745-Genes, Dominant,
pubmed-meshheading:21148745-Genetic Predisposition to Disease,
pubmed-meshheading:21148745-Humans,
pubmed-meshheading:21148745-Immunohistochemistry,
pubmed-meshheading:21148745-Male,
pubmed-meshheading:21148745-Molecular Sequence Data,
pubmed-meshheading:21148745-Mutation,
pubmed-meshheading:21148745-Pedigree,
pubmed-meshheading:21148745-Potassium Channels, Inwardly Rectifying,
pubmed-meshheading:21148745-Tachycardia, Ventricular
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pubmed:year |
2011
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pubmed:articleTitle |
Biophysical and molecular characterization of a novel de novo KCNJ2 mutation associated with Andersen-Tawil syndrome and catecholaminergic polymorphic ventricular tachycardia mimicry.
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pubmed:affiliation |
Masonic Medical Research Laboratory, Utica, NY 13501-1787, USA.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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