| タイトル |
Novel HADHB mutations in a patient with mitochondrial trifunctional protein deficiency
|
| 著者 |
Nakama Mina
Sasai Hideo
Kubota Mitsuru
Hasegawa Yuki
Fujiki Ryoji
Okuyama Torayuki
Ohara Osamu
Fukao Toshiyuki
|
| 収録物名 |
HUMAN GENOME VARIATION
|
| 巻 | 7 |
| 号 | 1 |
| 収録物識別子 |
EISSN 2054-345X
|
| 言語 |
英語
|
| 資源タイプ | 学術雑誌論文 |
| 出版者 |
NATURE PUBLISHING GROUP
|
| 発行日 | 2020-04-2 |
| アクセス権 | メタデータのみ |
| 関連情報 |
[DOI] 10.1038/s41439-020-0097-z
[PMID] 32257295
|
| 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. |
