SMPX Deficiency Causes Stereocilia Degeneration and Progressive Hearing Loss in CBA/CaJ Mice

The small muscle protein, x-linked (SMPX) encodes a small protein containing 88 amino acids. Malfunction of this protein can cause a sex-linked non-syndromic hearing loss, named X-linked deafness 4 (DFNX4). Herein, we reported a point mutation and a frameshift mutation in two Chinese families who de...

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Detalles Bibliográficos
Autores principales: Tu, Hailong, Zhang, Aizhen, Fu, Xiaolong, Xu, Shiqi, Bai, Xiaohui, Wang, Haibo, Gao, Jiangang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Cell and Developmental Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8551870/
https://www.ncbi.nlm.nih.gov/pubmed/34722533
http://dx.doi.org/10.3389/fcell.2021.750023

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8551870/
https://www.ncbi.nlm.nih.gov/pubmed/34722533
http://dx.doi.org/10.3389/fcell.2021.750023

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