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Homozygous variegate porphyria A severe skin disease of Infancy

✍ Scribed by Pertti Mustajoki; Raimo Tenhunen; Kirsti Maria Niemi; Yves Nordmann; Helena Kääriäinen; Reijo Norio

Book ID
115089627
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
457 KB
Volume
32
Category
Article
ISSN
0009-9163

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✍ Axel Neu; Michele Eiselt; Matthias Paul; Kathrin Sauter; Birgit Stallmeyer; Dirk 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 460 KB

Cardiac sodium channels are key players in the generation and propagation of action potentials in the human heart. Heterozygous mutations in the SCN5A gene have been found to be associated with long QT syndrome, Brugada syndrome, and sinus node dysfunction (SND). Recently, overlapping arrhythmia phe