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Ophthalmic Genetics Volume 42, 2021 - Issue 1
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Research Reports

OPA1 haploinsufficiency due to a novel splicing variant resulting in mitochondrial dysfunction without mitochondrial DNA depletion

Chuanbin Suna Eye Center, The Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou, ChinaView further author information
,
Xiaoyu Wub Division of Medical Genetics and Genomics, the Children’s Hospitals, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, ChinaView further author information
,
Hai-Xia Baia Eye Center, The Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou, ChinaView further author information
,
Chenghui Wangb Division of Medical Genetics and Genomics, the Children’s Hospitals, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, ChinaView further author information
,
Zhe Liuc Department of Ophthalmology, Zhejiang Provincial People’s Hospital, Hangzhou, ChinaView further author information
,
Chenxi Yangb Division of Medical Genetics and Genomics, the Children’s Hospitals, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, ChinaView further author information
,
Yijun Lub Division of Medical Genetics and Genomics, the Children’s Hospitals, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, ChinaView further author information
&
Pingping Jiangb Division of Medical Genetics and Genomics, the Children’s Hospitals, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, ChinaCorrespondence[email protected]
ORCID Iconhttps://orcid.org/0000-0002-4975-4861View further author information
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Pages 45-52 | Received 01 Aug 2020, Accepted 02 Nov 2020, Published online: 29 Nov 2020

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