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Nonsense variants in STAG2 result in distinct sex-dependent phenotypes.
Aoi, Hiromi; Lei, Ming; Mizuguchi, Takeshi; Nishioka, Nobuko; Goto, Tomohide; Miyama, Sahoko; Suzuki, Toshifumi; Iwama, Kazuhiro; Uchiyama, Yuri; Mitsuhashi, Satomi; Itakura, Atsuo; Takeda, Satoru; Matsumoto, Naomichi.
Afiliação
  • Aoi H; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Lei M; Department of Obstetrics and Gynecology, Faculty of Medicine, Juntendo University, Tokyo, Japan.
  • Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Nishioka N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Goto T; Department of Obstetrics and Gynecology, Koshigaya Municipal Hospital, Saitama, Japan.
  • Miyama S; Department of Neurology, Kanagawa Children's Medical Center, Kanagawa, Japan.
  • Suzuki T; Department of Neurology, Tokyo Metropolitan Children's Medical Center, Fuchu, Tokyo, Japan.
  • Iwama K; Department of Obstetrics and Gynecology, Faculty of Medicine, Juntendo University, Tokyo, Japan.
  • Uchiyama Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Mitsuhashi S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Itakura A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Takeda S; Department of Obstetrics and Gynecology, Faculty of Medicine, Juntendo University, Tokyo, Japan.
  • Matsumoto N; Department of Obstetrics and Gynecology, Faculty of Medicine, Juntendo University, Tokyo, Japan.
J Hum Genet ; 64(5): 487-492, 2019 May.
Article em En | MEDLINE | ID: mdl-30765867
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Códon sem Sentido / Mutação de Sentido Incorreto / Antígenos Nucleares Tipo de estudo: Prognostic_studies Limite: Child / Female / Humans / Male Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Japão País de publicação: Reino Unido
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Códon sem Sentido / Mutação de Sentido Incorreto / Antígenos Nucleares Tipo de estudo: Prognostic_studies Limite: Child / Female / Humans / Male Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Japão País de publicação: Reino Unido