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Germline gain-of-function mutation of STAT1 rescued by somatic mosaicism in immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like disorder.
Lee, Jeong Seok; An, Yohan; Yoon, Christopher J; Kim, Jeong Yeon; Kim, Kyung Hwan; Freeman, Alexandra F; Yim, Jae-Joon; Shin, Eui-Cheol; Holland, Steven M; Lee, Eun Young; Ju, Young Seok.
Afiliación
  • Lee JS; Division of Rheumatology, Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Korea; Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology, Korea.
  • An Y; Biomedical Science and Engineering Interdisciplinary Program, Korea Advanced Institute of Science and Technology, Korea.
  • Yoon CJ; Research Center for Natural Sciences, Korea Advanced Institute of Science and Technology, Daejeon, Korea; Department of Medicine, Washington University in St Louis, St Louis, Mo.
  • Kim JY; Division of Rheumatology, Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Korea.
  • Kim KH; Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology, Korea.
  • Freeman AF; Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
  • Yim JJ; Division of Pulmonary and Critical Care Medicine, Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Korea.
  • Shin EC; Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology, Korea.
  • Holland SM; Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
  • Lee EY; Division of Rheumatology, Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Korea. Electronic address: elee@snu.ac.kr.
  • Ju YS; Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology, Korea; Biomedical Science and Engineering Interdisciplinary Program, Korea Advanced Institute of Science and Technology, Korea. Electronic address: ysju@kaist.ac.kr.
J Allergy Clin Immunol ; 145(3): 1017-1021, 2020 03.
Article en En | MEDLINE | ID: mdl-31805313
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedades Genéticas Ligadas al Cromosoma X / Diabetes Mellitus Tipo 1 / Diarrea / Factor de Transcripción STAT1 / Enfermedades del Sistema Inmune Límite: Female / Humans Idioma: En Revista: J Allergy Clin Immunol Año: 2020 Tipo del documento: Article
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedades Genéticas Ligadas al Cromosoma X / Diabetes Mellitus Tipo 1 / Diarrea / Factor de Transcripción STAT1 / Enfermedades del Sistema Inmune Límite: Female / Humans Idioma: En Revista: J Allergy Clin Immunol Año: 2020 Tipo del documento: Article