Mutations of MAP1B encoding a microtubule-associated phosphoprotein cause sensorineural hearing loss

The pathophysiology underlying spiral ganglion cell defect–induced deafness remains elusive. Using the whole exome sequencing approach, in combination with functional assays and a mouse disease model, we identified the potentially novel deafness-causative MAP1B gene encoding a highly conserved micro...

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Detalles Bibliográficos
Autores principales: Cui, Limei, Zheng, Jing, Zhao, Qiong, Chen, Jia-Rong, Liu, Hanqing, Peng, Guanghua, Wu, Yue, Chen, Chao, He, Qiufen, Shi, Haosong, Yin, Shankai, Friedman, Rick A., Chen, Ye, Guan, Min-Xin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7714412/
https://www.ncbi.nlm.nih.gov/pubmed/33268592
http://dx.doi.org/10.1172/jci.insight.136046

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