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RNA-seq analysis, targeted long-read sequencing and in silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathy

Mariko Okubo, S. Noguchi, Tomonari Awaya, Motoyasu Hosokawa, Nobue Tsukui, Megumu Ogawa, Shinichiro Hayashi, Hirofumi Komaki, Madoka Mori‐Yoshimura, Yasushi Oya, Yūji Takahashi, Tetsuhiro Fukuyama, Michinori Funato, Yousuke Hosokawa, Satoru Kinoshita, Tsuyoshi Matsumura, Sadao Nakamura, Azusa Oshiro, Hiroshi Terashima, Tetsuro Nagasawa, Tatsuharu Sato, Yumi Shimada, Yasuko Tokita, Masatoshi Hagiwara, Katsuhisa Ogata, Ichizo Nishino

2022Human Genetics34 citationsDOI

Topics & Concepts

BiologyIn silicoGeneticsExonDuchenne muscular dystrophyExon skippingRNA splicingGeneHuman geneticsComputational biologyAlternative splicingBioinformaticsRNAMuscle Physiology and DisordersRNA Research and SplicingRNA modifications and cancer
RNA-seq analysis, targeted long-read sequencing and in silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathy | Litcius