Andersen-Tawil syndrome (ATS) is a rare inherited disorder characterized by periodic paralysis, mild dysmorphic features, and QT or QU prolongation with ventricular arrhythmias in electrocardiograms (ECGs). Mutations of KCNJ2, encoding the human inward rectifying potassium channel Kir 2.1, have been
A prevalent founder mutation and genotype–phenotype correlations of OTOF in Japanese patients with auditory neuropathy
✍ Scribed by T Matsunaga; H Mutai; S Kunishima; K Namba; N Morimoto; Y Shinjo; Y Arimoto; Y Kataoka; T Shintani; N Morita; T Sugiuchi; S Masuda; A Nakano; H Taiji; K Kaga
- Book ID
- 118262547
- Publisher
- John Wiley and Sons
- Year
- 2012
- Tongue
- English
- Weight
- 859 KB
- Volume
- 82
- Category
- Article
- ISSN
- 0009-9163
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