Novel biallelic mutations in TMEM126B cause splicing defects and lead to Leigh-like syndrome with severe complex I deficiency
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
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1435-232X
- Extent
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Online-Ressource
- Language
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Englisch
- Notes
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online resource.
- Bibliographic citation
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Novel biallelic mutations in TMEM126B cause splicing defects and lead to Leigh-like syndrome with severe complex I deficiency ; day:8 ; month:12 ; year:2022 ; pages:1-8
Journal of human genetics ; (8.12.2022), 1-8
- Creator
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Zhou, Xiyue
Lou, Xiaoting
Zhou, Yuwei
Xie, Yaojun
Han, Xinyu
Dong, Qiyu
Ying, Xiaojie
Laurentinah, Mahlatsi Refiloe
Zhang, Luyi
Chen, Zhehui
Li, Dongxiao
Fang, Hezhi
Lyu, Jianxin
Yang, Yanling
Wang, Ya
- Contributor
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SpringerLink (Online service)
- DOI
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10.1038/s10038-022-01102-4
- URN
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urn:nbn:de:101:1-2023021809002014081915
- Rights
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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14.08.2025, 11:02 AM CEST
Data provider
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Zhou, Xiyue
- Lou, Xiaoting
- Zhou, Yuwei
- Xie, Yaojun
- Han, Xinyu
- Dong, Qiyu
- Ying, Xiaojie
- Laurentinah, Mahlatsi Refiloe
- Zhang, Luyi
- Chen, Zhehui
- Li, Dongxiao
- Fang, Hezhi
- Lyu, Jianxin
- Yang, Yanling
- Wang, Ya
- SpringerLink (Online service)