Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations

Por Okubo, Mariko, Minami, Narihiro, Goto, Kanako, Goto, Yuichi, Noguchi, Satoru, Mitsuhashi, Satomi, Nishino, Ichizo
Publicado no J Hum Genet (2016)

Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan

Por Okubo, Mariko, Goto, Kanako, Komaki, Hirofumi, Nakamura, Harumasa, Mori-Yoshimura, Madoka, Hayashi, Yukiko K., Mitsuhashi, Satomi, Noguchi, Satoru, Kimura, En, Nishino, Ichizo
Publicado no Orphanet J Rare Dis (2017)