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Multiple different missense mutations in the pore region ofHERGin patients with long QT syndrome

✍ Scribed by C. A. Satler; Mark R. Vesely; Priya Duggal; G. S. Ginsburg; A. H. Beggs


Publisher
Springer
Year
1998
Tongue
English
Weight
228 KB
Volume
102
Category
Article
ISSN
0340-6717

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A de novo missense mutation (R1623Q) of
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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