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Heterozygous mutation in the pore of potassium channel gene KvLQT1 causes an apparently normal phenotype in long QT syndrome

✍ Scribed by Neyroud, Nathalie; Denjoy, Isabelle; Donger, Claire; Gary, Françoise; Villain, Elisabeth; Leenhardt, Antoine; Benali, Karim; Schwartz, Ketty; Coumel, Philippe; Guicheney, Pascale


Book ID
110024677
Publisher
Nature Publishing Group
Year
1998
Tongue
English
Weight
243 KB
Volume
6
Category
Article
ISSN
1018-4813

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Molecular genetics of the long QT syndro
✍ Kirsi Saarinen; Heikki Swan; Katariina Kainulainen; Lauri Toivonen; Matti Viitas 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 213 KB 👁 3 views

At least three different gene loci were recently shown to account for the long QT syndrome (LQTS), a monogenic disorder with altered myocardial repolarization and occurrence of life-threatening cardiac arrhythmias. We screened 44 unrelated probands for mutations of the gene encoding the cardiac pota