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A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome.
Sofronova, Viktoriia; Fukushima, Yu; Masuno, Mitsuo; Naka, Mami; Nagata, Miho; Ishihara, Yasuki; Miyashita, Yohei; Asano, Yoshihiro; Moriwaki, Takahito; Iwata, Rina; Terawaki, Seigo; Yamanouchi, Yasuko; Otomo, Takanobu.
Afiliação
  • Sofronova V; Department of Molecular and Genetic Medicine, Kawasaki Medical School, Kurashiki, Japan.
  • Fukushima Y; Laboratory of Molecular Medicine and Human Genetics, North-Eastern Federal University, Yakutsk, Russia.
  • Masuno M; Division of Neonatology, National Hospital Organization Okayama Medical Center, Okayama, Japan.
  • Naka M; Department of Medical Genetics, Kawasaki Medical School Hospital, Kurashiki, Japan.
  • Nagata M; Genetic Counseling Program, Graduate School of Health and Welfare, Kawasaki University of Medical Welfare, Kurashiki, Japan.
  • Ishihara Y; Genetic Counseling Program, Graduate School of Health and Welfare, Kawasaki University of Medical Welfare, Kurashiki, Japan.
  • Miyashita Y; Department of Cardiovascular Medicine (IRUD Analysis Center), Osaka University Graduate School of Medicine, Suita, Japan.
  • Asano Y; Department of Cardiovascular Medicine (IRUD Analysis Center), Osaka University Graduate School of Medicine, Suita, Japan.
  • Moriwaki T; Department of Cardiovascular Medicine (IRUD Analysis Center), Osaka University Graduate School of Medicine, Suita, Japan.
  • Iwata R; Department of Cardiovascular Medicine (IRUD Analysis Center), Osaka University Graduate School of Medicine, Suita, Japan.
  • Terawaki S; Department of Molecular and Genetic Medicine, Kawasaki Medical School, Kurashiki, Japan.
  • Yamanouchi Y; Department of Molecular and Genetic Medicine, Kawasaki Medical School, Kurashiki, Japan.
  • Otomo T; Department of Molecular and Genetic Medicine, Kawasaki Medical School, Kurashiki, Japan.
Hum Genome Var ; 9(1): 26, 2022 Jul 25.
Article em En | MEDLINE | ID: mdl-35879281
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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Prognostic_studies / Risk_factors_studies Idioma: En Revista: Hum Genome Var Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Japão
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Prognostic_studies / Risk_factors_studies Idioma: En Revista: Hum Genome Var Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Japão