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Detecting mitochondrial mutations associated with aminoglycoside ototoxicity by noninvasive prenatal testing

OBJECTIVES: Numerous diseases and disorders are associated with mitochondrial DNA (mtDNA) mutations, among which m.1555A > G and m.1494C > T mutations in the 12 S ribosomal RNA gene contribute to aminoglycoside‐induced and nonsyndromic hearing loss worldwide. METHODS: A total of 76,842 qualifi...

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Detalles Bibliográficos
Autores principales: Huang, Quanfei, Liu, Yanhui, Lei, Wei, Liang, Jiajie, Wang, Yang, Zheng, Minhua, Huang, Xiaoyan, Liu, Yuanru, Huang, Kaisheng, Huang, Min
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9833975/
https://www.ncbi.nlm.nih.gov/pubmed/36579624
http://dx.doi.org/10.1002/jcla.24827