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A novel mutation in the ubiquinol-cytochrome c reductase synthesis-like gene associated with complex III deficiency and Björnstad syndrome: A case report

RATIONALE: The ubiquinol-cytochrome c reductase synthesis-like (BCS1L) gene is located on chromosome 2 (2q35) and encodes an ATPase that is associated with various cellular activities and is embedded in the mitochondrial inner membrane; this ATPase is presumed to facilitate the insertion of the Ries...

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Detalles Bibliográficos
Autores principales:	Liu, Xuncan, Zhang, Yanfeng, Liang, Jianmin, Yang, Si, Chen, Chen
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Lippincott Williams & Wilkins 2020
Materias:	5300
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7598881/ https://www.ncbi.nlm.nih.gov/pubmed/33126389 http://dx.doi.org/10.1097/MD.0000000000023026

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