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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Vydáno v:Sci Rep
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group UK 2020
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Article
On-line přístup: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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