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Molecular mechanisms determining severity in patients with Pierson syndrome.
Minamikawa, Shogo; Miwa, Saori; Inagaki, Tetsuji; Nishiyama, Kei; Kaito, Hiroshi; Ninchoji, Takeshi; Yamamura, Tomohiko; Nagano, China; Sakakibara, Nana; Ishimori, Shingo; Hara, Shigeo; Yoshikawa, Norishige; Hirano, Daishi; Harada, Ryoko; Hamada, Riku; Matsunoshita, Natsuki; Nagata, Michio; Shima, Yuko; Nakanishi, Koichi; Nagase, Hiroaki; Takeda, Hiroki; Morisada, Naoya; Iijima, Kazumoto; Nozu, Kandai.
Afiliación
  • Minamikawa S; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Miwa S; Department of Pediatrics, Jikei University School of Medicine, Tokyo, Japan.
  • Inagaki T; Department of Pediatric Nephrology, Miyagi Children's Hospital, Sendai, Japan.
  • Nishiyama K; Department of Pediatrics, Graduate School of Medical Science, Kyushu University, Fukuoka, Japan.
  • Kaito H; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Ninchoji 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.
  • Sakakibara N; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Ishimori S; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Hara S; Department of Diagnostic Pathology, Kobe City Medical Center General Hospital, Kobe, Japan.
  • Yoshikawa N; Clinical Research Center, Wakayama Medical University, Wakayama, Japan.
  • Hirano D; Department of Pediatrics, Jikei University School of Medicine, Tokyo, Japan.
  • Harada R; Department of Nephrology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
  • Hamada R; Department of Nephrology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
  • Matsunoshita N; Department of Pediatrics, Kita-Harima Medical Center, Ono, Japan.
  • Nagata M; Department of Kidney and Vascular Pathology, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan.
  • Shima Y; Department of Pediatrics, Wakayama Medical University, Wakayama, Japan.
  • Nakanishi K; Department of Child Health and Welfare (Pediatrics), Graduate School of Medicine, University of the Ryukyus, Nishihara, Japan.
  • Nagase H; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Takeda H; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Morisada N; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Iijima K; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Nozu K; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan. nozu@med.kobe-u.ac.jp.
J Hum Genet ; 65(4): 355-362, 2020 Apr.
Article en En | MEDLINE | ID: mdl-31959872

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Empalme del ARN / Trastornos de la Pupila / Laminina / Mutación Missense / Síndromes Miasténicos Congénitos / Membrana Basal Glomerular / Síndrome Nefrótico Tipo de estudio: Prognostic_studies Límite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Reino Unido

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Empalme del ARN / Trastornos de la Pupila / Laminina / Mutación Missense / Síndromes Miasténicos Congénitos / Membrana Basal Glomerular / Síndrome Nefrótico Tipo de estudio: Prognostic_studies Límite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Reino Unido