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Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency.
Felgentreff, Kerstin; Lee, Yu Nee; Frugoni, Francesco; Du, Likun; van der Burg, Mirjam; Giliani, Silvia; Tezcan, Ilhan; Reisli, Ismail; Mejstrikova, Ester; de Villartay, Jean-Pierre; Sleckman, Barry P; Manis, John; Notarangelo, Luigi D.
Afiliación
  • Felgentreff K; Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, Mass.
  • Lee YN; Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, Mass.
  • Frugoni F; Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, Mass.
  • Du L; Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, Mass.
  • van der Burg M; Department of Immunology, Erasmus Medical Center, Rotterdam, The Netherlands.
  • Giliani S; Angelo Nocivelli Institute for Molecular Medicine, Department of Pediatrics, University of Brescia, Brescia, Italy.
  • Tezcan I; Immunology Department, Ihsan Dogramaci Children's Hospital, Hacettepe University Medical School, Sihhiye, Ankara, Turkey.
  • Reisli I; Department of Pediatric Immunology and Allergy, Necmettin Erbakan University, Meram Medical Faculty, Konya, Turkey.
  • Mejstrikova E; CLIP-Childhood Leukemia Investigation Prague, Department of Pediatric Hematology and Oncology, 2nd Faculty of Medicine and University Hospital Motol, Charles University, Prague, Czech Republic.
  • de Villartay JP; Laboratory of "Genome Dynamics in the Immune System", INSERM UMR1163, Université Paris Descartes Sorbonne Paris Cité, Institut Imagine, Paris, France.
  • Sleckman BP; Department of Pathology and Immunology, Washington University School of Medicine, St Louis, Mo.
  • Manis J; Department of Transfusion Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Mass.
  • Notarangelo LD; Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, Mass; Harvard Stem Cell Institute, Harvard University, Boston, Mass. Electronic address: Luigi.Notarangelo@childrens.harvard.edu.
J Allergy Clin Immunol ; 136(1): 140-150.e7, 2015 Jul.
Article en En | MEDLINE | ID: mdl-25917813
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteínas Nucleares / Linfocitos B / Inmunodeficiencia Combinada Grave / Mutación Límite: Adolescent / Adult / Child / Child, preschool / Humans / Infant / Male / Newborn Idioma: En Revista: J Allergy Clin Immunol Año: 2015 Tipo del documento: Article
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteínas Nucleares / Linfocitos B / Inmunodeficiencia Combinada Grave / Mutación Límite: Adolescent / Adult / Child / Child, preschool / Humans / Infant / Male / Newborn Idioma: En Revista: J Allergy Clin Immunol Año: 2015 Tipo del documento: Article