文献
J-GLOBAL ID:201802279465206555
整理番号:18A0713275
de novo平衡相互転座により引き起こされたSox5ハプロ不全患者の臨床的および遺伝的特性化【JST・京大機械翻訳】
Clinical and genetic characterization of a patient with SOX5 haploinsufficiency caused by a de novo balanced reciprocal translocation
著者 (10件):
Fukushi Daisuke
(Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Aichi, Japan)
,
Yamada Kenichiro
(Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Aichi, Japan)
,
Suzuki Kaoru
(Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Aichi, Japan)
,
Inaba Mie
(Department of Pediatrics, Central Hospital, Aichi Human Service Center, Kasugai, Aichi, Japan)
,
Nomura Noriko
(Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Aichi, Japan)
,
Suzuki Yasuyo
(Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Aichi, Japan)
,
Katoh Kimiko
(Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Aichi, Japan)
,
Mizuno Seiji
(Department of Pediatrics, Central Hospital, Aichi Human Service Center, Kasugai, Aichi, Japan)
,
Wakamatsu Nobuaki
(Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Aichi, Japan)
,
Wakamatsu Nobuaki
(Department of Neurology, Neurology and Stroke Center, Takamatsu Municipal Hospital, Takamatsu, Kagawa, Japan)
資料名:
Gene
(Gene)
巻:
655
ページ:
65-70
発行年:
2018年
JST資料番号:
E0701B
ISSN:
0378-1119
資料種別:
逐次刊行物 (A)
記事区分:
原著論文
発行国:
オランダ (NLD)
言語:
英語 (EN)