Novel biallelic mutations in TMEM126B cause splicing defects and lead to Leigh-like syndrome with severe complex I deficiency
- Standort
-
Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
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1435-232X
- Umfang
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Online-Ressource
- Sprache
-
Englisch
- Anmerkungen
-
online resource.
- Erschienen in
-
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
- Urheber
-
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
- Beteiligte Personen und Organisationen
-
SpringerLink (Online service)
- DOI
-
10.1038/s10038-022-01102-4
- URN
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urn:nbn:de:101:1-2023021809002014081915
- Rechteinformation
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
-
14.08.2025, 11:02 MESZ
Datenpartner
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Beteiligte
- 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)
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