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Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing.
BMC Cardiovasc Disord. 2012 Oct 25;12:95. doi: 10.1186/1471-2261-12-95.
BMC Cardiovasc Disord. 2012.
PMID: 23098067
Free PMC article.
Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction.
Itoh H, Berthet M, Fressart V, Denjoy I, Maugenre S, Klug D, Mizusawa Y, Makiyama T, Hofman N, Stallmeyer B, Zumhagen S, Shimizu W, Wilde AA, Schulze-Bahr E, Horie M, Tezenas du Montcel S, Guicheney P.
Itoh H, et al.
Eur J Hum Genet. 2016 Aug;24(8):1160-6. doi: 10.1038/ejhg.2015.257. Epub 2015 Dec 16.
Eur J Hum Genet. 2016.
PMID: 26669661
Free PMC article.
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Mechanisms of KCNQ1 channel dysfunction in long QT syndrome involving voltage sensor domain mutations.
Huang H, Kuenze G, Smith JA, Taylor KC, Duran AM, Hadziselimovic A, Meiler J, Vanoye CG, George AL Jr, Sanders CR.
Huang H, et al.
Sci Adv. 2018 Mar 7;4(3):eaar2631. doi: 10.1126/sciadv.aar2631. eCollection 2018 Mar.
Sci Adv. 2018.
PMID: 29532034
Free PMC article.
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