Linked Life Data

19136169

Source:http://linkedlifedata.com/resource/pubmed/id/19136169

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2010-6-14
pubmed:abstractText
Long-QT syndrome is a congenital cardiac disease resulting in ventricular arrhythmias and sudden death. Genetic mutations in two protein ion-channel genes, KCNQ1 and KCNH2. The mutations position in these genes provides additional information about the evaluation of the risk-stratification. In a Spanish family in whom previous repetitive syncope episodes, sudden death and pathological prolongation of the QT interval were documented, a novel heterozygous mutation in the KCNH2 gene (A1218>G) was identified. This mutation loading to amino acid substitution H420R in the S1 transmembrane domain of KCNH2. The new A1218>G mutation in the KCNH2 gene detected in this Spanish family causes arrhythmia manifestation in the carriers.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
1874-1754
pubmed:author
pubmed:copyrightInfo
Copyright (c) 2008 Elsevier Ireland Ltd. All rights reserved.
pubmed:issnType
Electronic
pubmed:day
9
pubmed:volume
142
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
206-8
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
Novel mutation (H402R) in the S1 domain of KCNH2-encoded gene associated with long QT syndrome in a Spanish family.
pubmed:publicationType
Letter, Comparative Study, Case Reports, Research Support, Non-U.S. Gov't