| pubmed-article:21496174 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:21496174 | lifeskim:mentions | umls-concept:C0030705 | lld:lifeskim |
| pubmed-article:21496174 | lifeskim:mentions | umls-concept:C0039070 | lld:lifeskim |
| pubmed-article:21496174 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:21496174 | lifeskim:mentions | umls-concept:C0030125 | lld:lifeskim |
| pubmed-article:21496174 | lifeskim:mentions | umls-concept:C1514562 | lld:lifeskim |
| pubmed-article:21496174 | lifeskim:mentions | umls-concept:C1883221 | lld:lifeskim |
| pubmed-article:21496174 | lifeskim:mentions | umls-concept:C0206243 | lld:lifeskim |
| pubmed-article:21496174 | lifeskim:mentions | umls-concept:C0439799 | lld:lifeskim |
| pubmed-article:21496174 | lifeskim:mentions | umls-concept:C1883204 | lld:lifeskim |
| pubmed-article:21496174 | lifeskim:mentions | umls-concept:C1880389 | lld:lifeskim |
| pubmed-article:21496174 | pubmed:issue | 2 | lld:pubmed |
| pubmed-article:21496174 | pubmed:dateCreated | 2011-4-18 | lld:pubmed |
| pubmed-article:21496174 | pubmed:abstractText | We report the case of a woman with syncope and persistently prolonged QTc interval. Screening of congenital long QT syndrome (LQTS) genes revealed that she was a heterozygous carrier of a novel KCNH2 mutation, c.G238C. Electrophysiological and biochemical characterizations unveiled the pathogenicity of this new mutation, displaying a 2-fold reduction in protein expression and current density due to a maturation/trafficking-deficient mechanism. The patient's phenotype can be fully explained by this observation. This study illustrates the importance of performing genetic analyses and mutation characterization when there is a suspicion of congenital LQTS. Identifying mutations in the PAS domain or other domains of the hERG1 channel and understanding their effect may provide more focused and mutation-specific risk assessment in this population. | lld:pubmed |
| pubmed-article:21496174 | pubmed:language | eng | lld:pubmed |
| pubmed-article:21496174 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:21496174 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:21496174 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:21496174 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:21496174 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:21496174 | pubmed:month | Apr | lld:pubmed |
| pubmed-article:21496174 | pubmed:issn | 1542-474X | lld:pubmed |
| pubmed-article:21496174 | pubmed:author | pubmed-author:SchläpferJürg... | lld:pubmed |
| pubmed-article:21496174 | pubmed:author | pubmed-author:AbrielHuguesH | lld:pubmed |
| pubmed-article:21496174 | pubmed:author | pubmed-author:FellmannFlore... | lld:pubmed |
| pubmed-article:21496174 | pubmed:author | pubmed-author:GriloLiliana... | lld:pubmed |
| pubmed-article:21496174 | pubmed:copyrightInfo | ©2011, Wiley Periodicals, Inc. | lld:pubmed |
| pubmed-article:21496174 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:21496174 | pubmed:volume | 16 | lld:pubmed |
| pubmed-article:21496174 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:21496174 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:21496174 | pubmed:pagination | 213-8 | lld:pubmed |
| pubmed-article:21496174 | pubmed:meshHeading | pubmed-meshheading:21496174... | lld:pubmed |
| pubmed-article:21496174 | pubmed:meshHeading | pubmed-meshheading:21496174... | lld:pubmed |
| pubmed-article:21496174 | pubmed:meshHeading | pubmed-meshheading:21496174... | lld:pubmed |
| pubmed-article:21496174 | pubmed:meshHeading | pubmed-meshheading:21496174... | lld:pubmed |
| pubmed-article:21496174 | pubmed:meshHeading | pubmed-meshheading:21496174... | lld:pubmed |
| pubmed-article:21496174 | pubmed:meshHeading | pubmed-meshheading:21496174... | lld:pubmed |
| pubmed-article:21496174 | pubmed:meshHeading | pubmed-meshheading:21496174... | lld:pubmed |
| pubmed-article:21496174 | pubmed:meshHeading | pubmed-meshheading:21496174... | lld:pubmed |
| pubmed-article:21496174 | pubmed:meshHeading | pubmed-meshheading:21496174... | lld:pubmed |
| pubmed-article:21496174 | pubmed:meshHeading | pubmed-meshheading:21496174... | lld:pubmed |
| pubmed-article:21496174 | pubmed:meshHeading | pubmed-meshheading:21496174... | lld:pubmed |
| pubmed-article:21496174 | pubmed:year | 2011 | lld:pubmed |
| pubmed-article:21496174 | pubmed:articleTitle | Patient with syncope and LQTS carrying a mutation in the PAS domain of the hERG1 channel. | lld:pubmed |
| pubmed-article:21496174 | pubmed:affiliation | Department of Clinical Research, University of Bern, Switzerland. | lld:pubmed |
| pubmed-article:21496174 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:21496174 | pubmed:publicationType | Case Reports | lld:pubmed |
| pubmed-article:21496174 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| entrez-gene:3757 | entrezgene:pubmed | pubmed-article:21496174 | lld:entrezgene |
| http://linkedlifedata.com/r... | entrezgene:pubmed | pubmed-article:21496174 | lld:entrezgene |
