Targeted Exon Sequencing Successfully Discovers Rare Causative Genes and Clarifies the Molecular Epidemiology of Japanese Deafness Patients

Open Access

Peer-reviewed

Research Article

Maiko Miyagawa ,

Contributed equally to this work with: Maiko Miyagawa, Takehiko Naito, Shin-ya Nishio

Affiliation Department of Otorhinolaryngology, Shinshu University School of Medicine, Asahi, Matsumoto, Japan
⨯
Takehiko Naito ,

Contributed equally to this work with: Maiko Miyagawa, Takehiko Naito, Shin-ya Nishio

Affiliation Department of Otorhinolaryngology, Shinshu University School of Medicine, Asahi, Matsumoto, Japan
⨯
Shin-ya Nishio ,

Contributed equally to this work with: Maiko Miyagawa, Takehiko Naito, Shin-ya Nishio

Affiliation Department of Otorhinolaryngology, Shinshu University School of Medicine, Asahi, Matsumoto, Japan
⨯
Naoyuki Kamatani,

Affiliation Laboratory for Statistical Analysis, RIKEN, Kanagawa, Japan
⨯
Shin-ichi Usami

* E-mail: usami@shinshu-u.ac.jp

Affiliation Department of Otorhinolaryngology, Shinshu University School of Medicine, Asahi, Matsumoto, Japan
⨯

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Nonsense mutation
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Deafness
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Dideoxy DNA sequencing
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Mutation
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Insertion mutation
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Missense mutation
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Mutation detection
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Genetic screens
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