Article
Complex aberrant splicing in the induced pluripotent stem cell-derived cardiomyocytes from a patient with long QT syndrome carrying KCNQ1-A344Aspl mutation.
Heart rhythm - 1 Oct 2018
Wuriyanghai Yimin, Makiyama Takeru, Sasaki Kenichi, Kamakura Tsukasa, Yamamoto Yuta, Hayano Mamoru, Harita Takeshi, Nishiuchi Suguru, Chen Jiarong, Kohjitani Hirohiko, Hirose Sayako, Yokoi Fumika, Gao Jingshan, Chonabayashi Kazuhisa, Watanabe Ken, Ohno Seiko, Yoshida Yoshinori, Kimura Takeshi, Horie Minoru
Abstract excerpt
BACKGROUND: Long QT syndrome type 1 (LQT1) is caused by mutations in KCNQ1, which encodes the α subunit of the slow delayed rectifier potassium current channel. We previously reported that a synonymous mutation, c.1032G>A, p.A344Aspl, in KCNQ1 is most commonly identified in genotyped patients with LQT1 in Japan and the aberrant splicing was analyzed in the lymphocytes isolated from patients' blood samples....
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