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language
eng
Author
Nakama, Mina Clinical Genetics Center, Gifu University Hospital, Gifu, Japan Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan
Sasai, Hideo Clinical Genetics Center, Gifu University Hospital, Gifu, Japan Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan
Kubota, Mitsuru Department of General Pediatrics & Interdisciplinary Medicine, National Center for Child Health and Development, Tokyo, Japan
Hasegawa, Yuki Department of Pediatrics, Faculty of Medicine, Shimane University, Shimane, Japan
Fujiki, Ryoji Department of Applied Genomics, Kazusa DNA Research Institute, Chiba, Japan
Okuyama, Torayuki Department of Clinical Laboratory Medicine, National Center for Child Health and Development, Tokyo, Japan
Ohara, Osamu Department of Applied Genomics, Kazusa DNA Research Institute, Chiba, Japan
Fukao, Toshiyuki Clinical Genetics Center, Gifu University Hospital, Gifu, Japan Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan
Journal Title
HUMAN GENOME VARIATION
Volume
7
Issue
1
ISSN(Online)
2054-345X
Published Date
2020-04-2
DOI
PubMed ID
Publisher
NATURE PUBLISHING GROUP
NII Type
Journal Article
OAI-PMH Set
Faculty of Science and Engineering
Remark
We thank the patient and family who participated in our study. We also thank Ms. Midori Furui for technical assistance. This research was supported by AMED under Grant Number JP17ek0109276 and by Health and Labor Sciences Research Grants (H29-nanchitou(nan)-ippan-051) for research on rare and intractable diseases. We thank Natasha Beeton-Kempen, Ph.D., and Rebecca Porter, Ph.D., from the Edanz Group (www.edanzediting.com/ac) for editing a draft of this manuscript.
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