Novel m.4268T>C mutation in the mitochondrial tRNA(Ile) gene is associated with hearing loss in two Chinese families

BACKGROUND: Herein, we report the genetic, clinical, molecular and biochemical features of two Han Chinese pedigrees with suggested maternally transmitted non-syndromic hearing loss. AIM: To investigate the pathophysiology of hearing loss associated with mitochondrial tRNA mutations. METHODS: Sixtee...

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Detalles Bibliográficos
Autores principales: Zhao, Li-Jing, Zhang, Zhi-Li, Fu, Yong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2022
Materias:
Observational Study
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8727281/
https://www.ncbi.nlm.nih.gov/pubmed/35071519
http://dx.doi.org/10.12998/wjcc.v10.i1.205

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8727281/
https://www.ncbi.nlm.nih.gov/pubmed/35071519
http://dx.doi.org/10.12998/wjcc.v10.i1.205

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