Novel ACTG1 mutations in patients identified by massively parallel DNA sequencing cause progressive hearing loss

Human ACTG1 mutations are associated with high-frequency hearing loss, and patients with mutations in this gene are good candidates for electric acoustic stimulation. To better understand the genetic etiology of hearing loss cases, massively parallel DNA sequencing was performed on 7,048 unrelated J...

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Publicado en:Sci Rep
Autores principales: Miyajima, Hiroki, Moteki, Hideaki, Day, Timothy, Nishio, Shin-ya, Murata, Takaaki, Ikezono, Tetsuo, Takeda, Hidehiko, Abe, Satoko, Iwasaki, Satoshi, Takahashi, Masahiro, Naito, Yasushi, Yamazaki, Hiroshi, Kanda, Yukihiko, Kitajiri, Shin-ichiro, Usami, Shin-ichi
Formato: Artigo
Lenguaje:Inglês
Publicado: Nature Publishing Group UK 2020
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7184572/
https://ncbi.nlm.nih.gov/pubmed/32341388
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-020-63690-5
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