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

Research output: Contribution to journalLetter

Original languageEnglish
Pages (from-to)200-202
Number of pages3
JournalEuropean Journal of Obstetrics and Gynecology and Reproductive Biology
Volume230
DOIs
Publication statusPublished - 01-11-2018

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Exome
Fetus
Mutation

All Science Journal Classification (ASJC) codes

  • Reproductive Medicine
  • Obstetrics and Gynaecology

Cite this

Suzumori, Nobuhiro ; Inagaki, Hidehito ; Ohtani, Ayano ; Kumagai, Kyoko ; Takeda, Eri ; Yoshihara, Hiroyuki ; Sawada, Yuki ; Inuzuka, Saki ; Iwagaki, Shigenori ; Takahashi, Yuichiro ; Kurahashi, Hiroki ; Sugiura-Ogasawara, Mayumi. / Compound heterozygous RYR1 mutations by whole exome sequencing in a family with three repeated affected fetuses with fetal akinesia. In: European Journal of Obstetrics and Gynecology and Reproductive Biology. 2018 ; Vol. 230. pp. 200-202.
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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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Compound heterozygous RYR1 mutations by whole exome sequencing in a family with three repeated affected fetuses with fetal akinesia. / Suzumori, Nobuhiro; Inagaki, Hidehito; Ohtani, Ayano; Kumagai, Kyoko; Takeda, Eri; Yoshihara, Hiroyuki; Sawada, Yuki; Inuzuka, Saki; Iwagaki, Shigenori; Takahashi, Yuichiro; Kurahashi, Hiroki; Sugiura-Ogasawara, Mayumi.

In: European Journal of Obstetrics and Gynecology and Reproductive Biology, Vol. 230, 01.11.2018, p. 200-202.

Research output: Contribution to journalLetter

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 - 2018/11/1

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U2 - 10.1016/j.ejogrb.2018.09.013

DO - 10.1016/j.ejogrb.2018.09.013

M3 - Letter

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 -