Holt–Oram syndrome with right lung agenesis caused by a de novo mutation in the TBX5 gene

A de novo missense mutation (R1623Q) of

A de novo missense mutation (R1623Q) of the SCN5A gene in a Japanese girl with sporadic long QT syndrome

✍ Hiroyuki Yamagishi; Michiko Furutani; Mitsuhiro Kamisago; Yoshiyuki Morikawa; Yo 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 50 KB 👁 2 views

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