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A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs-Hoeijmakers syndrome.
Miyake, N; Ozasa, S; Mabe, H; Kimura, S; Shiina, M; Imagawa, E; Miyatake, S; Nakashima, M; Mizuguchi, T; Takata, A; Ogata, K; Matsumoto, N.
Afiliación
  • Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Ozasa S; Department of Pediatrics, Kumamoto University, Kumamoto, Japan.
  • Mabe H; Department of Pediatrics, Kumamoto University, Kumamoto, Japan.
  • Kimura S; Kumamoto City Child Development Support Center, Kumamoto, Japan.
  • Shiina M; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Imagawa E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Nakashima M; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Takata A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Ogata K; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Clin Genet ; 93(4): 929-930, 2018 04.
Article en En | MEDLINE | ID: mdl-28975623
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Discapacidades del Desarrollo / Secuencia de Aminoácidos / Proteínas de Transporte Vesicular / Exoma Límite: Child, preschool / Female / Humans / Male Idioma: En Revista: Clin Genet Año: 2018 Tipo del documento: Article País de afiliación: Japón
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Discapacidades del Desarrollo / Secuencia de Aminoácidos / Proteínas de Transporte Vesicular / Exoma Límite: Child, preschool / Female / Humans / Male Idioma: En Revista: Clin Genet Año: 2018 Tipo del documento: Article País de afiliación: Japón