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Mitochondrial Retinopathy by MT-ATP6 Variant Revealed by Whole-Genome Sequencing: A Case Report.

作者信息

Choi Jaehwan, Hwang Sungsoon, Jang Ja-Hyun, Kim Sang Jin

机构信息

Department of Ophthalmology, Kyung Hee University Medical Center, Kyung Hee University College of Medicine, Seoul, Korea.

Department of Clinical Research Design and Evaluation, Samsung Advanced Institute for Health Sciences & Technology (SAIHST), Sungkyunkwan University, Seoul, Korea.

出版信息

Korean J Ophthalmol. 2024 Aug;38(4):319-321. doi: 10.3341/kjo.2024.0013. Epub 2024 Jun 19.

Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8870/11321833/8ec7b18d35b8/kjo-2024-0013f1.jpg

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本文引用的文献

1
Retinitis pigmentosa.
Lancet. 2006 Nov 18;368(9549):1795-809. doi: 10.1016/S0140-6736(06)69740-7.
2
Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutation.
Ann Neurol. 2005 Aug;58(2):337-40. doi: 10.1002/ana.20555.
4
Sequence and organization of the human mitochondrial genome.
Nature. 1981 Apr 9;290(5806):457-65. doi: 10.1038/290457a0.

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