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All reported non-canonical splice site variants in GLA cause aberrant splicing.
Okada, Eri; Horinouchi, Tomoko; Yamamura, Tomohiko; Aoto, Yuya; Suzuki, Ryota; Ichikawa, Yuta; Tanaka, Yu; Masuda, Chika; Kitakado, Hideaki; Kondo, Atsushi; Sakakibara, Nana; Ishiko, Shinya; Nagano, China; Ishimori, Shingo; Usui, Joichi; Yamagata, Kunihiro; Matsuo, Masafumi; Nozu, Kandai.
Afiliação
  • Okada E; Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-Cho, Chuo-Ku, Kobe, Hyogo, 650-0017, Japan. okada.eri.oy@ms.hosp.tsukuba.ac.jp.
  • Horinouchi T; Department of Nephrology, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan. okada.eri.oy@ms.hosp.tsukuba.ac.jp.
  • Yamamura T; 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.
  • Suzuki R; 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, Hokkaido University Graduate School of Medicine, Sapporo, Japan.
  • Masuda 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.
  • Ishiko S; 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.
  • Ishimori S; 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, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-Cho, Chuo-Ku, Kobe, Hyogo, 650-0017, Japan.
  • Yamagata K; Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-Cho, Chuo-Ku, Kobe, Hyogo, 650-0017, Japan.
  • Matsuo M; Department of Nephrology, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan.
  • Nozu K; Department of Nephrology, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan.
Clin Exp Nephrol ; 27(9): 737-746, 2023 Sep.
Article em En | MEDLINE | ID: mdl-37254000
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Fabry / Sítios de Splice de RNA Limite: Humans Idioma: En Revista: Clin Exp Nephrol Assunto da revista: NEFROLOGIA Ano de publicação: 2023 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: Doença de Fabry / Sítios de Splice de RNA Limite: Humans Idioma: En Revista: Clin Exp Nephrol Assunto da revista: NEFROLOGIA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Japão