Pathogenic mtDNA variants, in particular single large-scale mtDNA deletions, are strongly associated with post-lingual onset sensorineural hearing loss in primary mitochondrial disease
| Autor: | Elander, Johanna, McCormick, Elizabeth M., Värendh, Maria, Stenfeldt, Karin, Ganetzky, Rebecca D., Goldstein, Amy, Zolkipli-Cunningham, Zarazuela, MacMullen, Laura E., Xiao, Rui, Falk, Marni J., Ehinger, Johannes K. |
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| Zdroj: | In Molecular Genetics and Metabolism November 2022 137(3):230-238 |
| Databáze: | ScienceDirect |
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