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Molecular analysis of gene variants in an Iranian family with psychomotor retardation mitochondrial disorder patient
In 1‐year‐old girl presenting with neurodegenerative mitochondrial disease (Leigh syndrome), mutation analysis was performed by whole exome sequencing. Pathogenic variants were then analyzed in parents and relatives by Sanger sequencing. We identified a point mutation c.G484A in NDUFS8 gene which wa...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10172453/ https://www.ncbi.nlm.nih.gov/pubmed/37180333 http://dx.doi.org/10.1002/ccr3.7308 |