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Identification of novel OCRL isoforms associated with phenotypic differences between Dent disease-2 and Lowe syndrome.
Sakakibara, Nana; Ijuin, Takeshi; Horinouchi, Tomoko; Yamamura, Tomohiko; Nagano, China; Okada, Eri; Ishiko, Shinya; Aoto, Yuya; Rossanti, Rini; Ninchoji, Takeshi; Awano, Hiroyuki; Nagase, Hiroaki; Minamikawa, Shogo; Tanaka, Ryojiro; Matsuyama, Takeshi; Nagatani, Koji; Kamei, Koichi; Jinnouchi, Kumiko; Ohtsuka, Yasufumi; Oka, Masafumi; Araki, Yoshinori; Tanaka, Toju; Harada, Mari S; Igarashi, Toru; Kitahara, Hikaru; Morisada, Naoya; Nakamura, Shun-Ichi; Okada, Taro; Iijima, Kazumoto; Nozu, Kandai.
Afiliação
  • Sakakibara N; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Ijuin T; Division of Biochemistry, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Horinouchi T; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Yamamura T; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Nagano C; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Okada E; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Ishiko S; Department of Nephrology, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan.
  • Aoto Y; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Rossanti R; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Ninchoji T; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Awano H; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Nagase H; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Minamikawa S; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Tanaka R; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Matsuyama T; Department of Nephrology, Hyogo Prefectural Kobe Children's Hospital, Kobe, Japan.
  • Nagatani K; Department of Pediatrics, Fussa Hospital, Tokyo, Japan.
  • Kamei K; Department of Pediatrics, Uwajima City Hospital, Uwajima, Japan.
  • Jinnouchi K; Division of Nephrology and Rheumatology, National Center for Child Health and Development, Tokyo, Japan.
  • Ohtsuka Y; Department of Pediatrics, Faculty of Medicine, Saga University, Saga, Japan.
  • Oka M; Department of Pediatrics, Faculty of Medicine, Saga University, Saga, Japan.
  • Araki Y; Department of Pediatrics, Faculty of Medicine, Saga University, Saga, Japan.
  • Tanaka T; Department of Pediatrics, National Hospital Organization Hokkaido Medical Center, Sapporo, Japan.
  • Harada MS; Department of Pediatrics, National Hospital Organization Hokkaido Medical Center, Sapporo, Japan.
  • Igarashi T; Department of Pediatrics, School of Medicine, University of Occupational and Environmental Health, Kitakyushu, Japan.
  • Kitahara H; Department of Pediatrics, Nippon Medical School Hospital, Tokyo, Japan.
  • Morisada N; Department of Pediatrics, Osaka Medical College, Takatsuki, Japan.
  • Nakamura SI; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Okada T; Department of Clinical Genetics, Hyogo Prefectural Kobe Children's Hospital, Kobe, Japan.
  • Iijima K; Division of Biochemistry, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Nozu K; Division of Biochemistry, Kobe University Graduate School of Medicine, Kobe, Japan.
Nephrol Dial Transplant ; 37(2): 262-270, 2022 01 25.
Article em En | MEDLINE | ID: mdl-34586410
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Monoéster Fosfórico Hidrolases / Doença de Dent / Síndrome Oculocerebrorrenal Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Nephrol Dial Transplant Assunto da revista: NEFROLOGIA / TRANSPLANTE Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Japão
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Monoéster Fosfórico Hidrolases / Doença de Dent / Síndrome Oculocerebrorrenal Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Nephrol Dial Transplant Assunto da revista: NEFROLOGIA / TRANSPLANTE Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Japão