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Clinical Diagnosis and Treatment of Leigh Syndrome Based on SURF1: Genotype and Phenotype

SURF1 encodes the assembly factor for maintaining the antioxidant of cytochrome c oxidase (COX) stability in the human electron respiratory chain. Mutations in SURF1 can cause Leigh syndrome (LS), a subacute neurodegenerative encephalopathy, characterized by early onset (infancy), grave prognosis, a...

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Detalles Bibliográficos
Autores principales:	Lee, Inn-Chi, Chiang, Kuo-Liang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8750222/ https://www.ncbi.nlm.nih.gov/pubmed/34943053 http://dx.doi.org/10.3390/antiox10121950

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