Novel HADHB mutations in a patient with mitochondrial trifunctional protein deficiency

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ID	52762
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	10.1038/s41439-020-0097-z
PubMed ID	32257295
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.