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Autosomal recessive complete STAT1 deficiency caused by compound heterozygous intronic mutations.
Sakata, Sonoko; Tsumura, Miyuki; Matsubayashi, Tadashi; Karakawa, Shuhei; Kimura, Shunsuke; Tamaura, Moe; Okano, Tsubasa; Naruto, Takuya; Mizoguchi, Yoko; Kagawa, Reiko; Nishimura, Shiho; Imai, Kohsuke; Le Voyer, Tom; Casanova, Jean-Laurent; Bustamante, Jacinta; Morio, Tomohiro; Ohara, Osamu; Kobayashi, Masao; Okada, Satoshi.
Afiliación
  • Sakata S; Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.
  • Tsumura M; Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.
  • Matsubayashi T; Department of Pediatrics, Seirei Hamamatsu General Hospital, Shizuoka, Japan.
  • Karakawa S; Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.
  • Kimura S; Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.
  • Tamaura M; Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.
  • Okano T; Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.
  • Naruto T; Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.
  • Mizoguchi Y; Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.
  • Kagawa R; Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.
  • Nishimura S; Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.
  • Imai K; Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.
  • Le Voyer T; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.
  • Casanova JL; Paris University, Imagine Institute, Paris, EU, France.
  • Bustamante J; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.
  • Morio T; Paris University, Imagine Institute, Paris, EU, France.
  • Ohara O; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
  • Kobayashi M; Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, Paris, EU, France.
  • Okada S; Study Center of Immunodeficiencies, Necker Hospital for Sick Children, Paris EU, France.
Int Immunol ; 32(10): 663-671, 2020 09 30.
Article en En | MEDLINE | ID: mdl-32603428
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Factor de Transcripción STAT1 / Enfermedades Genéticas Congénitas Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child / Humans / Male Idioma: En Revista: Int Immunol Asunto de la revista: ALERGIA E IMUNOLOGIA Año: 2020 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: Factor de Transcripción STAT1 / Enfermedades Genéticas Congénitas Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child / Humans / Male Idioma: En Revista: Int Immunol Asunto de la revista: ALERGIA E IMUNOLOGIA Año: 2020 Tipo del documento: Article País de afiliación: Japón