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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Taylor & Francis
2021
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| Materias: | |
| 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 |