Compound heterozygous RYR1 mutations by whole exome sequencing in a family with three repeated affected fetuses with fetal akinesia.
作者信息
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
机构信息
Department of Obstetrics & Gynecology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan; Division of Molecular and Clinical Genetics, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Aichi, Japan.
出版信息
Eur J Obstet Gynecol Reprod Biol. 2018 Nov;230:200-202. doi: 10.1016/j.ejogrb.2018.09.013. Epub 2018 Sep 12.
PMID:30236493
Abstract
摘要
Zotero 插件