RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy

Kohei Hamanaka, Satoko Miyatake, Eriko Koshimizu, Yoshinori Tsurusaki, Satomi Mitsuhashi, Kazuhiro Iwama, Ahmed N. Alkanaq, Atsushi Fujita, Eri Imagawa, Yuri Uchiyama, Nozomu Tawara, Yukio Ando, Yohei Misumi, Mariko Okubo, Mitsuko Nakashima, Takeshi Mizuguchi, Atsushi Takata, Noriko Miyake, Hirotomo Saitsu, Aritoshi Iida, Ichizo Nishino, Naomichi Matsumoto

Open source

DOI: 10.1038/s41436-018-0360-6
Published: 2019-07
Container: Genetics in Medicine
Publisher: Elsevier BV
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1038/s41436-018-0360-6,
  title = {RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy},
  author = {Kohei Hamanaka and Satoko Miyatake and Eriko Koshimizu and Yoshinori Tsurusaki and Satomi Mitsuhashi and Kazuhiro Iwama and Ahmed N. Alkanaq and Atsushi Fujita and Eri Imagawa and Yuri Uchiyama and Nozomu Tawara and Yukio Ando and Yohei Misumi and Mariko Okubo and Mitsuko Nakashima and Takeshi Mizuguchi and Atsushi Takata and Noriko Miyake and Hirotomo Saitsu and Aritoshi Iida and Ichizo Nishino and Naomichi Matsumoto},
  year = {2019},
  journal = {Genetics in Medicine},
  doi = {10.1038/s41436-018-0360-6},
  url = {https://doi.org/10.1038/s41436-018-0360-6}
}

RIS

TY  - JOUR
TI  - RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy
AU  - Kohei Hamanaka
AU  - Satoko Miyatake
AU  - Eriko Koshimizu
AU  - Yoshinori Tsurusaki
AU  - Satomi Mitsuhashi
AU  - Kazuhiro Iwama
AU  - Ahmed N. Alkanaq
AU  - Atsushi Fujita
AU  - Eri Imagawa
AU  - Yuri Uchiyama
AU  - Nozomu Tawara
AU  - Yukio Ando
AU  - Yohei Misumi
AU  - Mariko Okubo
AU  - Mitsuko Nakashima
AU  - Takeshi Mizuguchi
AU  - Atsushi Takata
AU  - Noriko Miyake
AU  - Hirotomo Saitsu
AU  - Aritoshi Iida
AU  - Ichizo Nishino
AU  - Naomichi Matsumoto
PY  - 2019
JO  - Genetics in Medicine
DO  - 10.1038/s41436-018-0360-6
UR  - https://doi.org/10.1038/s41436-018-0360-6
ER  -

APA

Hamanaka, K., Miyatake, S., Koshimizu, E., Tsurusaki, Y., Mitsuhashi, S., Iwama, K., Alkanaq, A. N., Fujita, A., Imagawa, E., Uchiyama, Y., Tawara, N., Ando, Y., Misumi, Y., Okubo, M., Nakashima, M., Mizuguchi, T., Takata, A., Miyake, N., Saitsu, H., Iida, A., Nishino, I., & Matsumoto, N. (2019). RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy. Genetics in Medicine. https://doi.org/10.1038/s41436-018-0360-6

Source records

crossref · retrieved 2026-09-26T17:16:36.559Z