COQ2 mutation associated isolated nephropathy in two siblings from a Chinese pedigree

BACKGROUD: Coenzyme Q10 (CoQ10) is involved in the biosynthesis of adenosine triphosphate (ATP), and is most abundant in the mitochondrial membrane. The primary CoQ10 deficiency caused by COQ2 defect is mostly manifested as encephalopathy, encephalopathy with nephropathy, and rarely as an isolated n...

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Detalles Bibliográficos
Autores principales: Li, Min, Yue, Zhihui, Lin, Hongrong, Wang, Haiyan, Chen, Huamu, Sun, Liangzhong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Taylor & Francis 2021
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7801106/
https://www.ncbi.nlm.nih.gov/pubmed/33397173
http://dx.doi.org/10.1080/0886022X.2020.1864402

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7801106/
https://www.ncbi.nlm.nih.gov/pubmed/33397173
http://dx.doi.org/10.1080/0886022X.2020.1864402

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