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Cryptic exon activation in SLC12A3 in Gitelman syndrome.
Nozu, Kandai; Nozu, Yoshimi; Nakanishi, Keita; Konomoto, Takao; Horinouchi, Tomoko; Shono, Akemi; Morisada, Naoya; Minamikawa, Shogo; Yamamura, Tomohiko; Fujimura, Junya; Nakanishi, Koichi; Ninchoji, Takeshi; Kaito, Hiroshi; Morioka, Ichiro; Taniguchi-Ikeda, Mariko; Vorechovsky, Igor; Iijima, Kazumoto.
Afiliación
  • Nozu K; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Nozu Y; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Nakanishi K; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Konomoto T; Department of Pediatrics, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.
  • Horinouchi T; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Shono A; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Morisada N; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Minamikawa S; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Yamamura T; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Fujimura J; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Nakanishi K; Department of Pediatrics, Wakayama Medical University, Wakayama, Japan.
  • Ninchoji T; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Kaito H; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Morioka I; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Taniguchi-Ikeda M; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Vorechovsky I; University of Southampton Faculty of Medicine, Southampton, UK.
  • Iijima K; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
J Hum Genet ; 62(2): 335-337, 2017 Feb.
Article en En | MEDLINE | ID: mdl-27784896
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Síndrome de Gitelman / Túbulos Renales Distales Tipo de estudio: Prognostic_studies Límite: Child, preschool / Female / Humans Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: Japón
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Síndrome de Gitelman / Túbulos Renales Distales Tipo de estudio: Prognostic_studies Límite: Child, preschool / Female / Humans Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: Japón