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Clinical features of autosomal recessive polycystic kidney disease in the Japanese population and analysis of splicing in PKHD1 gene for determination of phenotypes.
Ishiko, Shinya; Morisada, Naoya; Kondo, Atsushi; Nagai, Sadayuki; Aoto, Yuya; Okada, Eri; Rossanti, Rini; Sakakibara, Nana; Nagano, China; Horinouchi, Tomoko; Yamamura, Tomohiko; Ninchoji, Takeshi; Kaito, Hiroshi; Hamada, Riku; Shima, Yuko; Nakanishi, Koichi; Matsuo, Masafumi; Iijima, Kazumoto; Nozu, Kandai.
Afiliação
  • Ishiko S; Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1, Kusunoki-cho, Chuo-ku, Kobe, Hyogo, 650-0017, Japan.
  • Morisada N; Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1, Kusunoki-cho, Chuo-ku, Kobe, Hyogo, 650-0017, Japan. morisada@med.kobe-u.ac.jp.
  • Kondo A; Department of Clinical Genetics, Hyogo Prefectural Kobe Children's Hospital, 1-6-7, Minatojimaminami-machi, Chou-ku, Kobe, Hyogo, 650-0047, Japan. morisada@med.kobe-u.ac.jp.
  • Nagai S; Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1, Kusunoki-cho, Chuo-ku, Kobe, Hyogo, 650-0017, Japan.
  • Aoto Y; Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1, Kusunoki-cho, Chuo-ku, Kobe, Hyogo, 650-0017, Japan.
  • Okada E; Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1, Kusunoki-cho, Chuo-ku, Kobe, Hyogo, 650-0017, Japan.
  • Rossanti R; Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1, Kusunoki-cho, Chuo-ku, Kobe, Hyogo, 650-0017, Japan.
  • Sakakibara N; Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1, Kusunoki-cho, Chuo-ku, Kobe, Hyogo, 650-0017, Japan.
  • Nagano C; Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1, Kusunoki-cho, Chuo-ku, Kobe, Hyogo, 650-0017, Japan.
  • Horinouchi T; Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1, Kusunoki-cho, Chuo-ku, Kobe, Hyogo, 650-0017, Japan.
  • Yamamura T; Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1, Kusunoki-cho, Chuo-ku, Kobe, Hyogo, 650-0017, Japan.
  • Ninchoji T; Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1, Kusunoki-cho, Chuo-ku, Kobe, Hyogo, 650-0017, Japan.
  • Kaito H; Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1, Kusunoki-cho, Chuo-ku, Kobe, Hyogo, 650-0017, Japan.
  • Hamada R; Department of Nephrology, Hyogo Prefectural Kobe Children's Hospital, 1-6-7, Minatojimaminami-machi, Chou-ku, Kobe, Hyogo, 650-0047, Japan.
  • Shima Y; Department of Nephrology, Tokyo Metropolitan Children's Medical Center, 2-8-29 Musashidai, Fichu-shi, Tokyo, 183-8561, Japan.
  • Nakanishi K; Department of Pediatrics, Wakayama Medical University, 811-1, Kimiidera, Wakayama, Wakayama, 641-8509, Japan.
  • Matsuo M; Department of Child Health and Welfare (Pediatrics), Graduate School of Medicine, University of Ryukyus, 207 Uehara, Nishihara-cho, Nakagami-gun, Okinawa, 903-2015, Japan.
  • Iijima K; KNC Department of Nucleic Acid Drug Discovery, Faculty of Rehabilitation, Kobe Gakuin University, 518 Arise Ikawadani-cho, Nishi-ku, Kobe Hyogo, 651-2113, Japan.
  • Nozu K; Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1, Kusunoki-cho, Chuo-ku, Kobe, Hyogo, 650-0017, Japan.
Clin Exp Nephrol ; 26(2): 140-153, 2022 Feb.
Article em En | MEDLINE | ID: mdl-34536170

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Rim Policístico Autossômico Recessivo Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Female / Humans / Pregnancy País como assunto: Asia Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Rim Policístico Autossômico Recessivo Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Female / Humans / Pregnancy País como assunto: Asia Idioma: En Ano de publicação: 2022 Tipo de documento: Article