Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder

BACKGROUND: Auditory neuropathy spectrum disorder (ANSD) is a form of hearing loss in which auditory signal transmission from the inner ear to the auditory nerve and brain stem is distorted, giving rise to speech perception difficulties beyond that expected for the observed degree of hearing loss. F...

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Detalles Bibliográficos
Autores principales: Zong, Liang, Guan, Jing, Ealy, Megan, Zhang, Qiujing, Wang, Dayong, Wang, Hongyang, Zhao, Yali, Shen, Zhirong, Campbell, Colleen A, Wang, Fengchao, Yang, Ju, Sun, Wei, Lan, Lan, Ding, Dalian, Xie, Linyi, Qi, Yue, Lou, Xin, Huang, Xusheng, Shi, Qiang, Chang, Suhua, Xiong, Wenping, Yin, Zifang, Yu, Ning, Zhao, Hui, Wang, Jun, Wang, Jing, Salvi, Richard J, Petit, Christine, Smith, Richard J H, Wang, Qiuju
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2015
Materias:
New Loci
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4518735/
https://www.ncbi.nlm.nih.gov/pubmed/25986071
http://dx.doi.org/10.1136/jmedgenet-2014-102961

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