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Usefulness of functional splicing analysis to confirm precise disease pathogenesis in Diamond-Blackfan anemia caused by intronic variants in RPS19.
Takafuji, Satoru; Mori, Takeshi; Nishimura, Noriyuki; Yamamoto, Nobuyuki; Uemura, Suguru; Nozu, Kandai; Terui, Kiminori; Toki, Tsutomu; Ito, Etsuro; Muramatsu, Hideki; Takahashi, Yoshiyuki; Matsuo, Masafumi; Yamamura, Tomohiko; Iijima, Kazumoto.
Afiliación
  • Takafuji S; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Mori T; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Nishimura N; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Yamamoto N; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Uemura S; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Nozu K; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Terui K; Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
  • Toki T; Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
  • Ito E; Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
  • Muramatsu H; Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
  • Takahashi Y; Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
  • Matsuo M; Locomotion Biology Research Center, Kobe Gakuin University, Kobe, Japan.
  • Yamamura T; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
  • Iijima K; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
Pediatr Hematol Oncol ; 38(6): 515-527, 2021 Sep.
Article en En | MEDLINE | ID: mdl-33622161
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Proteínas Ribosómicas / Empalme del ARN / Anemia de Diamond-Blackfan / Mutación Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Humans / Male / Newborn Idioma: En Revista: Pediatr Hematol Oncol Asunto de la revista: HEMATOLOGIA / NEOPLASIAS / PEDIATRIA Año: 2021 Tipo del documento: Article País de afiliación: Japón
Texto completo
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XML
PubMed Links
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Proteínas Ribosómicas / Empalme del ARN / Anemia de Diamond-Blackfan / Mutación Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Humans / Male / Newborn Idioma: En Revista: Pediatr Hematol Oncol Asunto de la revista: HEMATOLOGIA / NEOPLASIAS / PEDIATRIA Año: 2021 Tipo del documento: Article País de afiliación: Japón