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

Division of Molecular Genetics

Research output: Contribution to journal › Letter › peer-review

2 Citations (Scopus)

Original language	English
Pages (from-to)	200-202
Number of pages	3
Journal	European Journal of Obstetrics and Gynecology and Reproductive Biology
Volume	230
DOIs	https://doi.org/10.1016/j.ejogrb.2018.09.013
Publication status	Published - 11-2018

All Science Journal Classification (ASJC) codes

Reproductive Medicine
Obstetrics and Gynaecology

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10.1016/j.ejogrb.2018.09.013

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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, 230, 200-202. https://doi.org/10.1016/j.ejogrb.2018.09.013

@article{a527383319914df2a19b8c20d5dcc737,

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

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",

year = "2018",

month = nov,

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

language = "English",

volume = "230",

pages = "200--202",

journal = "European Journal of Obstetrics and Gynecology and Reproductive Biology",

issn = "0301-2115",

publisher = "Elsevier Ireland Ltd",

}

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

Y1 - 2018/11

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UR - http://www.scopus.com/inward/citedby.url?scp=85056445401&partnerID=8YFLogxK

U2 - 10.1016/j.ejogrb.2018.09.013

DO - 10.1016/j.ejogrb.2018.09.013

M3 - Letter

C2 - 30236493

AN - SCOPUS:85056445401

SN - 0301-2115

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

ER -

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

All Science Journal Classification (ASJC) codes

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