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Heteroplasmic and homoplasmic m.616T>C in mitochondria tRNA(Phe) promote isolated chronic kidney disease and hyperuricemia
Inherited kidney diseases are the fifth most common cause of end-stage renal disease (ESRD). Mitochondrial dysfunction plays a vital role in the progression of inherited kidney diseases, while mitochondrial-transfer RNA (mt-tRNA) variants and their pathogenic contributions to kidney disease remain l...
Autores principales: | , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
American Society for Clinical Investigation
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9220945/ https://www.ncbi.nlm.nih.gov/pubmed/35472031 http://dx.doi.org/10.1172/jci.insight.157418 |