Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction

Transmission distortion of disease-causing alleles in long QT syndrome (LQTS) has been reported, suggesting a potential role of KCNQ1 and KCNH2 in reproduction. This study sought to investigate parental transmission in LQTS families according to ethnicity, gene loci (LQT1-3: KCNQ1, KCNH2, and SCN5A)...

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Udgivet i:Eur J Hum Genet
Main Authors: Itoh, Hideki, Berthet, Myriam, Fressart, Véronique, Denjoy, Isabelle, Maugenre, Svetlana, Klug, Didier, Mizusawa, Yuka, Makiyama, Takeru, Hofman, Nynke, Stallmeyer, Birgit, Zumhagen, Sven, Shimizu, Wataru, Wilde, Arthur A M, Schulze-Bahr, Eric, Horie, Minoru, Tezenas du Montcel, Sophie, Guicheney, Pascale
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2016
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4970673/
https://ncbi.nlm.nih.gov/pubmed/26669661
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.257
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