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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...

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Detalles Bibliográficos
Autores principales:	Lee, Cha Gon, Jang, Jahyeon, Jin, Hyun-Seok
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	D.A. Spandidos 2018
Materias:	Articles
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

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