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Copy number variations and founder effect underlying complete IL-10Rß deficiency in Portuguese kindreds.
Charbit-Henrion, Fabienne; Bègue, Bernadette; Sierra, Anaïs; Hanein, Sylvain; Stolzenberg, Marie-Claude; Li, Zhi; Pellegrini, Sandra; Garcelon, Nicolas; Jeanpierre, Marc; Neven, Bénédicte; Loge, Isabelle; Picard, Capucine; Rosain, Jérémie; Bustamante, Jacinta; Le Lorc'h, Marc; Pigneur, Bénédicte; Fernandes, Alicia; Rieux-Laucat, Frédéric; Amil Dias, Jorge; Ruemmele, Frank M; Cerf-Bensussan, Nadine.
Afiliación
  • Charbit-Henrion F; INSERM, UMR1163 and Institut Imagine, Laboratory of Intestinal Immunity, Paris, France.
  • Bègue B; Paris Descartes University-Sorbonne Paris Cité, Paris, France.
  • Sierra A; Department of Paediatric Gastroenterology, Hepatology and Nutrition, Necker-Enfants Malades Hospital, Assistance Publique des Hôpitaux de Paris (AP-HP), Paris, France.
  • Hanein S; GENIUS group, Paris, France.
  • Stolzenberg MC; INSERM, UMR1163 and Institut Imagine, Laboratory of Intestinal Immunity, Paris, France.
  • Li Z; Paris Descartes University-Sorbonne Paris Cité, Paris, France.
  • Pellegrini S; GENIUS group, Paris, France.
  • Garcelon N; INSERM, UMR1163 and Institut Imagine, Laboratory of Intestinal Immunity, Paris, France.
  • Jeanpierre M; Paris Descartes University-Sorbonne Paris Cité, Paris, France.
  • Neven B; GENIUS group, Paris, France.
  • Loge I; Paris Descartes University-Sorbonne Paris Cité, Paris, France.
  • Picard C; INSERM UMR1163 and Institut Imagine, Translational Genetic, Paris, France.
  • Rosain J; Paris Descartes University-Sorbonne Paris Cité, Paris, France.
  • Bustamante J; INSERM UMR1163 and Institut Imagine, Immunogenetics of Paediatric Autoimmunity, Paris, France.
  • Le Lorc'h M; Cytokine Signaling Unit, Institut Pasteur, INSERM 1221, Paris, France.
  • Pigneur B; Cytokine Signaling Unit, Institut Pasteur, INSERM 1221, Paris, France.
  • Fernandes A; Paris Descartes University-Sorbonne Paris Cité, Paris, France.
  • Rieux-Laucat F; Paris Descartes University-Sorbonne Paris Cité, Paris, France.
  • Amil Dias J; Genetic Unit, Cochin Hospital, Assistance Publique des Hôpitaux de Paris (AP-HP), Paris, France.
  • Ruemmele FM; Paris Descartes University-Sorbonne Paris Cité, Paris, France.
  • Cerf-Bensussan N; INSERM UMR1163 and Institut Imagine, Immunogenetics of Paediatric Autoimmunity, Paris, France.
PLoS One ; 13(10): e0205826, 2018.
Article en En | MEDLINE | ID: mdl-30365510

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Subunidad beta del Receptor de Interleucina-10 / Variaciones en el Número de Copia de ADN Límite: Female / Humans / Infant / Male País/Región como asunto: Europa Idioma: En Revista: PLoS One Asunto de la revista: CIENCIA / MEDICINA Año: 2018 Tipo del documento: Article País de afiliación: Francia

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Subunidad beta del Receptor de Interleucina-10 / Variaciones en el Número de Copia de ADN Límite: Female / Humans / Infant / Male País/Región como asunto: Europa Idioma: En Revista: PLoS One Asunto de la revista: CIENCIA / MEDICINA Año: 2018 Tipo del documento: Article País de afiliación: Francia