Compound heterozygous RYR1 mutations by whole exome sequencing in a family with three repeated affected fetuses with fetal akinesia

Nobuhiro Suzumori; Hidehito Inagaki; Ayano Ohtani; Kyoko Kumagai; Eri Takeda; Hiroyuki Yoshihara; Yuki Sawada; Saki Inuzuka; Shigenori Iwagaki; Yuichiro Takahashi; Hiroki Kurahashi; Mayumi Sugiura-Ogasawara

doi:10.1016/j.ejogrb.2018.09.013

Compound heterozygous RYR1 mutations by whole exome sequencing in a family with three repeated affected fetuses with fetal akinesia

Nobuhiro Suzumori, Hidehito Inagaki, Ayano Ohtani, Kyoko Kumagai, Eri Takeda, Hiroyuki Yoshihara, Yuki Sawada, Saki Inuzuka, Shigenori Iwagaki, Yuichiro Takahashi, Hiroki Kurahashi, Mayumi Sugiura-Ogasawara

分子遺伝学

研究成果: Letter › 査読

2 被引用数 (Scopus)

本文言語	English
ページ（範囲）	200-202
ページ数	3
ジャーナル	European Journal of Obstetrics and Gynecology and Reproductive Biology
巻	230
DOI	https://doi.org/10.1016/j.ejogrb.2018.09.013
出版ステータス	Published - 11-2018

All Science Journal Classification (ASJC) codes

生殖医学
産婦人科学

文献へのアクセス

10.1016/j.ejogrb.2018.09.013

他のファイルとリンク

引用スタイル

Suzumori, N., Inagaki, H., Ohtani, A., Kumagai, K., Takeda, E., Yoshihara, H., Sawada, Y., Inuzuka, S., Iwagaki, S., Takahashi, Y., Kurahashi, H., & Sugiura-Ogasawara, M. (2018). Compound heterozygous RYR1 mutations by whole exome sequencing in a family with three repeated affected fetuses with fetal akinesia. European Journal of Obstetrics and Gynecology and Reproductive Biology, 230, 200-202. https://doi.org/10.1016/j.ejogrb.2018.09.013

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author = "Nobuhiro Suzumori and Hidehito Inagaki and Ayano Ohtani and Kyoko Kumagai and Eri Takeda and Hiroyuki Yoshihara and Yuki Sawada and Saki Inuzuka and Shigenori Iwagaki and Yuichiro Takahashi and Hiroki Kurahashi and Mayumi Sugiura-Ogasawara",

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doi = "10.1016/j.ejogrb.2018.09.013",

language = "English",

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Suzumori, N, Inagaki, H, Ohtani, A, Kumagai, K, Takeda, E, Yoshihara, H, Sawada, Y, Inuzuka, S, Iwagaki, S, Takahashi, Y, Kurahashi, H & Sugiura-Ogasawara, M 2018, 'Compound heterozygous RYR1 mutations by whole exome sequencing in a family with three repeated affected fetuses with fetal akinesia', European Journal of Obstetrics and Gynecology and Reproductive Biology, vol. 230, pp. 200-202. https://doi.org/10.1016/j.ejogrb.2018.09.013

TY - JOUR

T1 - Compound heterozygous RYR1 mutations by whole exome sequencing in a family with three repeated affected fetuses with fetal akinesia

AU - Suzumori, Nobuhiro

AU - Inagaki, Hidehito

AU - Ohtani, Ayano

AU - Kumagai, Kyoko

AU - Takeda, Eri

AU - Yoshihara, Hiroyuki

AU - Sawada, Yuki

AU - Inuzuka, Saki

AU - Iwagaki, Shigenori

AU - Takahashi, Yuichiro

AU - Kurahashi, Hiroki

AU - Sugiura-Ogasawara, Mayumi

PY - 2018/11

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DO - 10.1016/j.ejogrb.2018.09.013

M3 - Letter

C2 - 30236493

AN - SCOPUS:85056445401

VL - 230

SP - 200

EP - 202

JO - European Journal of Obstetrics and Gynecology and Reproductive Biology

JF - European Journal of Obstetrics and Gynecology and Reproductive Biology

SN - 0028-2243

ER -