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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
20
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pubmed:dateCreated |
2004-5-25
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pubmed:abstractText |
The electrocardiographic short QT-interval syndrome forms a distinct clinical entity presenting with a high rate of sudden death and exceptionally short QT intervals. The disorder has recently been linked to gain-of-function mutation in KCNH2. The present study demonstrates that this disorder is genetically heterogeneous and can also be caused by mutation in the KCNQ1 gene.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
May
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pubmed:issn |
1524-4539
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:day |
25
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pubmed:volume |
109
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
2394-7
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:15159330-Aged,
pubmed-meshheading:15159330-Animals,
pubmed-meshheading:15159330-COS Cells,
pubmed-meshheading:15159330-Cercopithecus aethiops,
pubmed-meshheading:15159330-Electric Conductivity,
pubmed-meshheading:15159330-Electrocardiography,
pubmed-meshheading:15159330-Humans,
pubmed-meshheading:15159330-KCNQ Potassium Channels,
pubmed-meshheading:15159330-KCNQ1 Potassium Channel,
pubmed-meshheading:15159330-Male,
pubmed-meshheading:15159330-Mutation,
pubmed-meshheading:15159330-Potassium Channels,
pubmed-meshheading:15159330-Potassium Channels, Voltage-Gated,
pubmed-meshheading:15159330-Syndrome,
pubmed-meshheading:15159330-Ventricular Fibrillation
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pubmed:year |
2004
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pubmed:articleTitle |
Mutation in the KCNQ1 gene leading to the short QT-interval syndrome.
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pubmed:affiliation |
Laboratoire de Physiopathologie et de Pharmacologie Cellulaires et Moléculaires, INSERM U533, Hôtel-Dieu, Nantes, France.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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