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DNAJC14 Ameliorates Inner Ear Degeneration in the DFNB4 Mouse Model

The His723Arg (H723R) mutation in SLC26A4, encoding pendrin, is the most prevalent mutation in East Asia, resulting in DFNB4, an autosomal recessive type of genetic hearing loss. Although the main pathological mechanism of H723R was identified as a protein-folding defect in pendrin, there is still n...

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Detalles Bibliográficos
Autores principales: Choi, Hye Ji, Lee, Hyun Jae, Choi, Jin Young, Jeon, Ik Hyun, Noh, Byunghwa, Devkota, Sushil, Lee, Han-Woong, Eo, Seong Kug, Choi, Jae Young, Lee, Min Goo, Jung, Jinsei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society of Gene & Cell Therapy 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6940655/
https://www.ncbi.nlm.nih.gov/pubmed/31909090
http://dx.doi.org/10.1016/j.omtm.2019.11.019