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Identification of a novel AIFM1 variant from a Chinese family with auditory neuropathy

Background: Auditory neuropathy (AN) is a specific type of hearing loss characterized by impaired language comprehension. Apoptosis inducing factor mitochondrion associated 1 (AIFM1) is the most common gene associated with late-onset AN. In this study, we aimed to screen the pathogenic variant of AI...

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Detalles Bibliográficos
Autores principales: Wang, Rongrong, Bai, Xiaohui, Yang, Huiming, Ma, Jingyu, Yu, Shudong, Lu, Zhiming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9721464/
https://www.ncbi.nlm.nih.gov/pubmed/36479253
http://dx.doi.org/10.3389/fgene.2022.1064823