Allele-specific ablation rescues electrophysiological abnormalities in a human iPS cell model of long-QT syndrome with a CALM2 mutation

Calmodulin is a ubiquitous Ca2+ sensor molecule encoded by three distinct calmodulin genes, CALM1-3. Recently, mutations in CALM1-3 have been reported to be associated with severe early-onset long-QT syndrome (LQTS). However, the underlying mechanism through which heterozygous calmodulin mutations l...

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Veröffentlicht in:Human molecular genetics 2017-05, Vol.26 (9), p.1670-1677
Hauptverfasser: Yamamoto, Yuta, Makiyama, Takeru, Harita, Takeshi, Sasaki, Kenichi, Wuriyanghai, Yimin, Hayano, Mamoru, Nishiuchi, Suguru, Kohjitani, Hirohiko, Hirose, Sayako, Chen, Jiarong, Yokoi, Fumika, Ishikawa, Taisuke, Ohno, Seiko, Chonabayashi, Kazuhisa, Motomura, Hideki, Yoshida, Yoshinori, Horie, Minoru, Makita, Naomasa, Kimura, Takeshi
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Sprache:eng
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