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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...
Autores principales: | Tu, Hailong, Zhang, Aizhen, Fu, Xiaolong, Xu, Shiqi, Bai, Xiaohui, Wang, Haibo, Gao, Jiangang |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2021
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Materias: | |
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 |
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