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Splicing defect in RFXANK results in a moderate combined immunodeficiency and long-duration clinical course
Authors:Thomas?Prod’homme,Benjamin?Dekel,Giovanna?Barbieri,Barbara?Lisowska-Grospierre,Rina?Katz,Dominique?Charron,Catherine?Alcaide-Loridan  author-information"  >  author-information__contact u-icon-before"  >  mailto:Catherine.Alcaide@bhdc.jussieu.fr"   title="  Catherine.Alcaide@bhdc.jussieu.fr"   itemprop="  email"   data-track="  click"   data-track-action="  Email author"   data-track-label="  "  >Email author,Shimon?Pollack
Affiliation:(1) INSERM U396, Centre de Recherches Biomedicales des Cordeliers, 15 rue de l"rsquo"Ecole de Medecine, 75006 Paris, France;(2) Department of Pediatrics, Sheba Medical Center, Tel-Hashomer, Israel;(3) INSERM U 429, Hôpital Necker Enfants-Malades, Paris, France;(4) Department of Immunology, B. Rappaport Faculty of Medicine—Technion, Haifa, Israel;(5) Present address: Istituto di Biologia dello Sviluppo, CNR, 152 via Ugo La Malfa, Palermo, Italy
Abstract:
Keywords:Immunodeficiency diseases  Human  Gene regulation  Molecular biology  Antigen presentation/processing
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