文献
J-GLOBAL ID:202202232939244238
整理番号:22A1178605
Menkes病の中国人患者におけるRNAシークエンシングと組み合わせた全ゲノム配列決定による新しい深部イントロン変異体の同定【JST・京大機械翻訳】
Identification of a Novel Deep Intronic Variant by Whole Genome Sequencing Combined With RNA Sequencing in a Chinese Patient With Menkes Disease
著者 (19件):
Zhi Xiufang
(1Graduate College of Tianjin Medical University, Tianjin, China)
,
Zhi Xiufang
(2Tianjin Children’s Hospital (Children’s Hospital of Tianjin University), Tianjin, China)
,
Ai Qi
(3Key Laboratory of Cancer Prevention and Therapy, Department of Pediatric Oncology, National Clinical Research Center for Cancer, Tianjin’s Clinical Research Center for Cancer, Tianjin Medical University Cancer Institute and Hospital, Tianjin Medical University, Tianjin, China)
,
Ai Qi
(4Department of Hematology and Oncology, Tianjin Children’s Hospital, Tianjin, China)
,
Sheng Wenchao
(1Graduate College of Tianjin Medical University, Tianjin, China)
,
Sheng Wenchao
(2Tianjin Children’s Hospital (Children’s Hospital of Tianjin University), Tianjin, China)
,
Yu Yuping
(1Graduate College of Tianjin Medical University, Tianjin, China)
,
Yu Yuping
(2Tianjin Children’s Hospital (Children’s Hospital of Tianjin University), Tianjin, China)
,
Shu Jianbo
(2Tianjin Children’s Hospital (Children’s Hospital of Tianjin University), Tianjin, China)
,
Shu Jianbo
(5Tianjin Pediatric Research Institute, Tianjin, China)
,
Shu Jianbo
(6Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin, China)
,
Yu Changshun
(7Tianjin Kingmed Center for Clinical Laboratory, Tianjin, China)
,
Yu Xiaoli
(2Tianjin Children’s Hospital (Children’s Hospital of Tianjin University), Tianjin, China)
,
Yu Xiaoli
(8Department of Neurology, Tianjin Children’s Hospital, Tianjin, China)
,
Li Dong
(2Tianjin Children’s Hospital (Children’s Hospital of Tianjin University), Tianjin, China)
,
Li Dong
(8Department of Neurology, Tianjin Children’s Hospital, Tianjin, China)
,
Cai Chunquan
(2Tianjin Children’s Hospital (Children’s Hospital of Tianjin University), Tianjin, China)
,
Cai Chunquan
(5Tianjin Pediatric Research Institute, Tianjin, China)
,
Cai Chunquan
(6Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin, China)
資料名:
Frontiers in Genetics (Web)
(Frontiers in Genetics (Web))
巻:
13
ページ:
852764
発行年:
2022年
JST資料番号:
U7071A
ISSN:
1664-8021
資料種別:
逐次刊行物 (A)
記事区分:
原著論文
発行国:
スイス (CHE)
言語:
英語 (EN)