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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.
Kinoshita, Moritoshi; Higashihara, Eiji; Kawano, Haruna; Higashiyama, Ryo; Koga, Daisuke; Fukui, Takafumi; Gondo, Nobuhisa; Oka, Takehiko; Kawahara, Kozo; Rigo, Krisztina; Hague, Tim; Katsuragi, Kiyonori; Sudo, Kimiyoshi; Takeshi, Masahiko; Horie, Shigeo; Nutahara, Kikuo.
Afiliação
  • Kinoshita M; Diagnostic Division, Otsuka Pharmaceutical Co., Ltd., Tokushima, Japan.
  • Higashihara E; Department of ADPKD Research, School of Medicine, Kyorin University, Tokyo, Japan.
  • Kawano H; Department of Urology, School of Medicine, Kyorin University, Tokyo, Japan.
  • Higashiyama R; Department of Urology, Graduate School of Medicine, Juntendo University, Tokyo, Japan.
  • Koga D; Diagnostic Division, Otsuka Pharmaceutical Co., Ltd., Tokushima, Japan.
  • Fukui T; Diagnostic Division, Otsuka Pharmaceutical Co., Ltd., Tokushima, Japan.
  • Gondo N; FALCO biosystems Ltd., Kyoto, Japan.
  • Oka T; FALCO biosystems Ltd., Kyoto, Japan.
  • Kawahara K; World Fusion Co., Ltd., Tokyo, Japan.
  • Rigo K; World Fusion Co., Ltd., Tokyo, Japan.
  • Hague T; Omixon Ltd., Budapest, Hungary.
  • Katsuragi K; Omixon Ltd., Budapest, Hungary.
  • Sudo K; Diagnostic Division, Otsuka Pharmaceutical Co., Ltd., Tokushima, Japan.
  • Takeshi M; Diagnostic Division, Otsuka Pharmaceutical Co., Ltd., Tokushima, Japan.
  • Horie S; Samon-cho Clinic, Medical Corporation Shinanokai, Tokyo, Japan.
  • Nutahara K; Department of Urology, Graduate School of Medicine, Juntendo University, Tokyo, Japan.
PLoS One ; 11(11): e0166288, 2016.
Article em En | MEDLINE | ID: mdl-27835667
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Rim Policístico Autossômico Dominante / Canais de Cátion TRPP / Sequenciamento de Nucleotídeos em Larga Escala / Mutação Tipo de estudo: Diagnostic_studies / Evaluation_studies / Prognostic_studies Limite: Adult / Humans Idioma: En Revista: PLoS One Ano de publicação: 2016 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Rim Policístico Autossômico Dominante / Canais de Cátion TRPP / Sequenciamento de Nucleotídeos em Larga Escala / Mutação Tipo de estudo: Diagnostic_studies / Evaluation_studies / Prognostic_studies Limite: Adult / Humans Idioma: En Revista: PLoS One Ano de publicação: 2016 Tipo de documento: Article