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A novel stop-gain CUL3 mutation in a Japanese patient with autism spectrum disorder.
Iwafuchi, Sota; Kikuchi, Atsuo; Endo, Wakaba; Inui, Takehiko; Aihara, Yu; Satou, Kazuhito; Kaname, Tadashi; Kure, Shigeo.
Afiliação
  • Iwafuchi S; Department of Pediatrics, Tohoku University Graduate School of Medicine, 2-1 Seiryo-machi, Aoba-ku, Sendai, Miyagi 980-8575, Japan.
  • Kikuchi A; Department of Pediatrics, Tohoku University Graduate School of Medicine, 2-1 Seiryo-machi, Aoba-ku, Sendai, Miyagi 980-8575, Japan. Electronic address: akikuchi-thk@umin.ac.jp.
  • Endo W; Department of Pediatric Neurology, Miyagi Children's Hospital, 4-3-17 Ochiai, Aoba-ku, Sendai, Miyagi 989-3126, Japan.
  • Inui T; Department of Pediatric Neurology, Miyagi Children's Hospital, 4-3-17 Ochiai, Aoba-ku, Sendai, Miyagi 989-3126, Japan.
  • Aihara Y; Department of Pediatrics, Tohoku University Graduate School of Medicine, 2-1 Seiryo-machi, Aoba-ku, Sendai, Miyagi 980-8575, Japan.
  • Satou K; Department of Genome Medicine, National Center for Child Health and Development, Setagaya, Tokyo 157-8535, Japan.
  • Kaname T; Department of Genome Medicine, National Center for Child Health and Development, Setagaya, Tokyo 157-8535, Japan.
  • Kure S; Department of Pediatrics, Tohoku University Graduate School of Medicine, 2-1 Seiryo-machi, Aoba-ku, Sendai, Miyagi 980-8575, Japan.
Brain Dev ; 43(2): 303-307, 2021 Feb.
Article em En | MEDLINE | ID: mdl-33097317

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Culina / Transtorno do Espectro Autista Tipo de estudo: Prognostic_studies Limite: Female / Humans / Infant País/Região como assunto: Asia Idioma: En Revista: Brain Dev Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Japão

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Culina / Transtorno do Espectro Autista Tipo de estudo: Prognostic_studies Limite: Female / Humans / Infant País/Região como assunto: Asia Idioma: En Revista: Brain Dev Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Japão