Technical Evaluation: Identification of Pathogenic Mutations in PKD1 and PKD2 in Patients with Autosomal Dominant Polycystic Kidney Disease by Next-Generation Sequencing and Use of a Comprehensive New Classification System

Moritoshi Kinoshita; Eiji Higashihara; Haruna Kawano; Ryo Higashiyama; Daisuke Koga; Takafumi Fukui; Nobuhisa Gondo; Takehiko Oka; Kozo Kawahara; Krisztina Rigo; Tim Hague; Kiyonori Katsuragi; Kimiyoshi Sudo; Masahiko Takeshi; Shigeo Horie; Kikuo Nutahara

doi:10.1371/journal.pone.0166288

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Peer-reviewed

Research Article

Technical Evaluation: Identification of Pathogenic Mutations in PKD1 and PKD2 in Patients with Autosomal Dominant Polycystic Kidney Disease by Next-Generation Sequencing and Use of a Comprehensive New Classification System

Moritoshi Kinoshita ,

* E-mail: kinoshitamo@otsuka.jp

Affiliation Diagnostic Division, Otsuka Pharmaceutical Co., Ltd., Tokushima, Japan

http://orcid.org/0000-0002-8944-9052

⨯
Eiji Higashihara,

Affiliations Department of ADPKD Research, School of Medicine, Kyorin University, Tokyo, Japan, Department of Urology, School of Medicine, Kyorin University, Tokyo, Japan
⨯
Haruna Kawano,

Affiliation Department of Urology, Graduate School of Medicine, Juntendo University, Tokyo, Japan
⨯
Ryo Higashiyama,

Affiliation Diagnostic Division, Otsuka Pharmaceutical Co., Ltd., Tokushima, Japan
⨯
Daisuke Koga,

Affiliation Diagnostic Division, Otsuka Pharmaceutical Co., Ltd., Tokushima, Japan
⨯
Takafumi Fukui,

Affiliation FALCO biosystems Ltd., Kyoto, Japan
⨯
Nobuhisa Gondo,

Affiliation FALCO biosystems Ltd., Kyoto, Japan
⨯
Takehiko Oka,

Affiliation World Fusion Co., Ltd., Tokyo, Japan
⨯
Kozo Kawahara,

Affiliation World Fusion Co., Ltd., Tokyo, Japan
⨯
Krisztina Rigo,

Affiliation Omixon Ltd., Budapest, Hungary
⨯
Tim Hague,

Affiliation Omixon Ltd., Budapest, Hungary
⨯
Kiyonori Katsuragi,

Affiliation Diagnostic Division, Otsuka Pharmaceutical Co., Ltd., Tokushima, Japan
⨯
Kimiyoshi Sudo,

Affiliation Diagnostic Division, Otsuka Pharmaceutical Co., Ltd., Tokushima, Japan
⨯
Masahiko Takeshi,

Current address: Shinanozaka Clinic, Medical Corporation Shinanokai, Tokyo, Japan

Affiliation Samon-cho Clinic, Medical Corporation Shinanokai, Tokyo, Japan
⨯
Shigeo Horie,

Affiliation Department of Urology, Graduate School of Medicine, Juntendo University, Tokyo, Japan
⨯
[ ... ],
Kikuo Nutahara

Affiliation Department of Urology, School of Medicine, Kyorin University, Tokyo, Japan
⨯
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Technical Evaluation: Identification of Pathogenic Mutations in PKD1 and PKD2 in Patients with Autosomal Dominant Polycystic Kidney Disease by Next-Generation Sequencing and Use of a Comprehensive New Classification System

Moritoshi Kinoshita,
Eiji Higashihara,
Haruna Kawano,
Ryo Higashiyama,
Daisuke Koga,
Takafumi Fukui,
Nobuhisa Gondo,
Takehiko Oka,
Kozo Kawahara,
Krisztina Rigo

Published: November 11, 2016
https://doi.org/10.1371/journal.pone.0166288

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Frameshift mutation
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Mutation detection
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Nonsense mutation
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Next-generation sequencing
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