| Title |
Novel HADHB mutations in a patient with mitochondrial trifunctional protein deficiency
|
| Creator |
Nakama Mina
Sasai Hideo
Kubota Mitsuru
Hasegawa Yuki
Fujiki Ryoji
Okuyama Torayuki
Ohara Osamu
Fukao Toshiyuki
|
| Source Title |
HUMAN GENOME VARIATION
|
| Volume | 7 |
| Issue | 1 |
| Journal Identifire |
EISSN 2054-345X
|
| Language |
eng
|
| Resource Type | journal article |
| Publisher |
NATURE PUBLISHING GROUP
|
| Date of Issued | 2020-04-2 |
| Access Rights | metadata only access |
| Relation |
[DOI] 10.1038/s41439-020-0097-z
[PMID] 32257295
|
| 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. |
