Early embryonic lethality in complex I associated p.L104P Nubpl mutant mice

BACKGROUND: Variants in the mitochondrial complex I assembly factor, NUBPL are associated with a rare cause of complex I deficiency mitochondrial disease. Patients affected by complex I deficiency harboring homozygous NUBPL variants typically have neurological problems including seizures, intellectu...

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Detalles Bibliográficos
Autores principales: Cheng, Cheng, Cleak, James, Weiss, Lan, Cater, Heather, Stewart, Michelle, Wells, Sara, Columbres, Rod Carlo, Shmara, Alyaa, Morato Torres, C. Alejandra, Zafar, Faria, Schüle, Birgitt, Neumann, Jonathan, Hatchwell, Eli, Kimonis, Virginia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9594925/
https://www.ncbi.nlm.nih.gov/pubmed/36280881
http://dx.doi.org/10.1186/s13023-022-02446-y

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