Novel HADHB mutations in a patient with mitochondrial trifunctional protein deficiency

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ID	52762
言語	英語
著者	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
掲載誌名	HUMAN GENOME VARIATION
巻	7
号	1
ISSN（Online）	2054-345X
発行日	2020-04-2
DOI	10.1038/s41439-020-0097-z
PubMed ID	32257295
出版者	NATURE PUBLISHING GROUP
資料タイプ	学術雑誌論文
部局	総合理工学部
備考	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.