Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy

by Taniguchi-Ikeda, Mariko, Kobayashi, Kazuhiro, Kanagawa, Motoi, Yu, Chih-chieh, Mori, Kouhei, Oda, Tetsuya, Kuga, Atsushi, Kurahashi, Hiroki, Akman, Hasan O., DiMauro, Salvatore, Kaji, Ryuji, Yokota, Toshifumi, Takeda, Shin’ichi, Toda, Tatsushi
Published 2011

A de novo mutation of the MYH7 gene in a large Chinese family with autosomal dominant myopathy

by Oda, Tetsuya, Xiong, Hui, Kobayashi, Kazuhiro, Wang, Shuo, Satake, Wataru, Jiao, Hui, Yang, Yanling, Cha, Pei-Chieng, Hayashi, Yukiko K, Nishino, Ichizo, Suzuki, Yutaka, Sugano, Sumio, Wu, Xiru, Toda, Tatsushi
Published 2015