Article
Identification of transmembrane protein 168 mutation in familial Brugada syndrome.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 1 May 2020
Shimizu Akio, Zankov Dimitar P, Sato Akira, Komeno Masahiro, Toyoda Futoshi, Yamazaki Satoru, Makita Toshinori, Noda Taichi, Ikawa Masahito, Asano Yoshihiro, Miyashita Yohei, Takashima Seiji, Morita Hiroshi, Ishikawa Taisuke, Makita Naomasa, Hitosugi Masahito, Matsuura Hiroshi, Ohno Seiko, Horie Minoru, Ogita Hisakazu
Abstract excerpt
Brugada syndrome (BrS) is an inherited channelopathy responsible for almost 20% of sudden cardiac deaths in patients with nonstructural cardiac diseases. Approximately 70% of BrS patients, the causative gene mutation(s) remains unknown. In this study, we used whole exome sequencing to investigate candidate mutations in a family clinically diagnosed with BrS. A heterozygous 1616G>A substitution (R539Q mutation)...
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