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Aberrant splicing caused by exonic single nucleotide variants positioned 2nd or 3rd to the last nucleotide in the COL4A5 gene.
Okada, Eri; Aoto, Yuya; Horinouchi, Tomoko; Yamamura, Tomohiko; Ichikawa, Yuta; Tanaka, Yu; Ueda, Chika; Kitakado, Hideaki; Kondo, Atsushi; Sakakibara, Nana; Suzuki, Ryota; Usui, Joichi; Yamagata, Kunihiro; Iijima, Kazumoto; Nozu, Kandai.
Afiliación
  • Okada E; Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-Cho, Chuo-Ku, Kobe, Hyogo, 650-0017, Japan. s2030356@s.tsukuba.ac.jp.
  • Aoto Y; Department of Nephrology, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan. s2030356@s.tsukuba.ac.jp.
  • 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.
  • Ichikawa Y; Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-Cho, Chuo-Ku, Kobe, Hyogo, 650-0017, Japan.
  • Tanaka Y; Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-Cho, Chuo-Ku, Kobe, Hyogo, 650-0017, Japan.
  • Ueda C; Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-Cho, Chuo-Ku, Kobe, Hyogo, 650-0017, Japan.
  • Kitakado H; Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-Cho, Chuo-Ku, Kobe, Hyogo, 650-0017, Japan.
  • Kondo A; 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.
  • Suzuki R; Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-Cho, Chuo-Ku, Kobe, Hyogo, 650-0017, Japan.
  • Usui J; Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo, Japan.
  • Yamagata K; Department of Nephrology, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan.
  • Iijima K; Department of Nephrology, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan.
  • Nozu K; Hyogo Prefectural Kobe Children's Hospital, Kobe, Japan.
Clin Exp Nephrol ; 27(3): 218-226, 2023 Mar.
Article en En | MEDLINE | ID: mdl-36371577
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Empalme del ARN / Nucleótidos Límite: Humans Idioma: En Revista: Clin Exp Nephrol Asunto de la revista: NEFROLOGIA Año: 2023 Tipo del documento: Article País de afiliación: Japón
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Empalme del ARN / Nucleótidos Límite: Humans Idioma: En Revista: Clin Exp Nephrol Asunto de la revista: NEFROLOGIA Año: 2023 Tipo del documento: Article País de afiliación: Japón