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A novel missense mutation in the ACTG1 gene in a family with congenital autosomal dominant deafness: A case report
The ACTG1 gene encodes the cytoskeletal protein γ-actin, which functions in non-muscle cells and is abundant in the auditory hair cells of the cochlea. Autosomal dominant missense mutations in ACTG1 are associated with DFNA20/26, a disorder that is typically characterized by post-lingual progressive...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
D.A. Spandidos
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5983957/ https://www.ncbi.nlm.nih.gov/pubmed/29620237 http://dx.doi.org/10.3892/mmr.2018.8837 |