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本文引用的文献

1
Integrated analysis of the molecular pathogenesis of FDXR-associated disease.FDXR 相关疾病的分子发病机制的综合分析。
Cell Death Dis. 2020 Jun 4;11(6):423. doi: 10.1038/s41419-020-2637-3.
2
Biallelic mutations in FDXR cause neurodegeneration associated with inflammation.FDXR 的双等位基因突变导致与炎症相关的神经退行性变。
J Hum Genet. 2018 Dec;63(12):1211-1222. doi: 10.1038/s10038-018-0515-y. Epub 2018 Sep 25.
3
Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.铁氧化还原蛋白还原酶基因的双等位基因突变导致伴有视神经萎缩的新型线粒体病。
Hum Mol Genet. 2018 Jun 15;27(12):2224. doi: 10.1093/hmg/ddy072.
4
FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases.FDXR突变导致感觉神经病变并扩大线粒体铁硫合成疾病的范围。
Am J Hum Genet. 2017 Oct 5;101(4):630-637. doi: 10.1016/j.ajhg.2017.09.007. Epub 2017 Sep 28.
5
Mitochondrial iron-sulfur cluster biogenesis from molecular understanding to clinical disease.线粒体铁硫簇生物合成：从分子理解到临床疾病
Neurosciences (Riyadh). 2017 Jan;22(1):4-13. doi: 10.17712/nsj.2017.1.20160542.
6
Trauma-Associated Leber Hereditary Optic Neuropathy.创伤相关性Leber遗传性视神经病变
Neuroophthalmology. 2016 May 26;40(4):192-196. doi: 10.1080/01658107.2016.1183682. eCollection 2016 Aug.
7
A neurodegenerative perspective on mitochondrial optic neuropathies.线粒体视神经病变的神经退行性视角。
Acta Neuropathol. 2016 Dec;132(6):789-806. doi: 10.1007/s00401-016-1625-2. Epub 2016 Sep 30.
8
Mitochondrial iron-sulfur protein biogenesis and human disease.线粒体铁硫蛋白生物合成与人类疾病
Biochimie. 2014 May;100:61-77. doi: 10.1016/j.biochi.2014.01.010. Epub 2014 Jan 23.
9
Incidence and clinical features of ethambutol-induced optic neuropathy in Korea.韩国乙胺丁醇所致视神经病变的发病率及临床特征
J Neuroophthalmol. 2008 Dec;28(4):269-77. doi: 10.1097/WNO.0b013e31818e3c6b.
10
Cloning and sequence of the human adrenodoxin reductase gene.人类肾上腺皮质铁氧化还原蛋白还原酶基因的克隆与序列分析
Proc Natl Acad Sci U S A. 1990 Nov;87(21):8516-20. doi: 10.1073/pnas.87.21.8516.

Novel biallelic compound heterozygous mutations in FDXR cause optic atrophy in a young female patient: a case report.

作者信息

Song Si-Jia, Hong Ying, Xu Ke, Zhang Chun

机构信息

Department of Ophthalmology, Peking University Third Hospital, Beijing 100191, China.

Beijing Key Laboratory of Restoration of Damaged Ocular Nerve, Peking University Third Hospital, Beijing 100191, China.

出版信息

Int J Ophthalmol. 2021 Nov 18;14(11):1796-1798. doi: 10.18240/ijo.2021.11.22. eCollection 2021.

DOI:10.18240/ijo.2021.11.22
PMID:34804873
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8569559/
Abstract
摘要