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Mutations in the SCN5A gene: Evidence for a link between long QT syndrome and sudden death?

✍ Scribed by Nadine Kiehne; Silke Kauferstein


Book ID
118447434
Publisher
Elsevier
Year
2007
Tongue
English
Weight
194 KB
Volume
1
Category
Article
ISSN
1872-4973

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Two missense mutations and a nine-nucleotide deletion of the cardiac sodium channel (SCN5A) gene have been shown to cause long QT syndrome (LQTS) in sev eral familial cases. We identified a novel missense mutation (R1623Q) of the SCN5A gene in a Japanese girl with sporadic LQTS. We used polymerase c