Novel biallelic mutations in TMEM126B cause splicing defects and lead to Leigh-like syndrome with severe complex I deficiency

Location
Deutsche Nationalbibliothek Frankfurt am Main
ISSN
1435-232X
Extent
Online-Ressource
Language
Englisch
Notes
online resource.

Bibliographic citation
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
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
SpringerLink (Online service)

DOI
10.1038/s10038-022-01102-4
URN
urn:nbn:de:101:1-2023021809002014081915
Rights
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
Last update
14.08.2025, 11:02 AM CEST

Data provider

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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)

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