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Homozygous deletion of RAG1, RAG2 and 5' region TRAF6 causes severe immune suppression and atypical osteopetrosis.
Weisz Hubshman, M; Basel-Vanagaite, L; Krauss, A; Konen, O; Levy, Y; Garty, B Z; Smirin-Yosef, P; Maya, I; Lagovsky, I; Taub, E; Marom, D; Gaash, D; Shichrur, K; Avigad, S; Hayman-Manzur, L; Villa, A; Sobacchi, C; Shohat, M; Yaniv, I; Stein, J.
Afiliación
  • Weisz Hubshman M; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.
  • Basel-Vanagaite L; Raphael Recanati Genetic Institute, Rabin Medical Center, Petach Tikva, Israel.
  • Krauss A; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Konen O; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.
  • Levy Y; Raphael Recanati Genetic Institute, Rabin Medical Center, Petach Tikva, Israel.
  • Garty BZ; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Smirin-Yosef P; Felsenstein Medical Research Center, Petach Tikva, Israel.
  • Maya I; Bone Marrow Transplantation Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.
  • Lagovsky I; Radiology Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.
  • Taub E; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Marom D; Kipper Institute of Immunology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.
  • Gaash D; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Shichrur K; Felsenstein Medical Research Center, Petach Tikva, Israel.
  • Avigad S; Kipper Institute of Immunology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.
  • Hayman-Manzur L; Felsenstein Medical Research Center, Petach Tikva, Israel.
  • Villa A; Genomic Bioinformatics Laboratory, Department of Molecular Biology, Ariel University, Ariel, Israel.
  • Sobacchi C; Raphael Recanati Genetic Institute, Rabin Medical Center, Petach Tikva, Israel.
  • Shohat M; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Yaniv I; Raphael Recanati Genetic Institute, Rabin Medical Center, Petach Tikva, Israel.
  • Stein J; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.
Clin Genet ; 91(6): 902-907, 2017 Jun.
Article en En | MEDLINE | ID: mdl-27808398
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Osteopetrosis / Proteínas Nucleares / Inmunodeficiencia Combinada Grave / Proteínas de Homeodominio / Factor 6 Asociado a Receptor de TNF / Proteínas de Unión al ADN Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Female / Humans / Infant / Male / Newborn Idioma: En Revista: Clin Genet Año: 2017 Tipo del documento: Article País de afiliación: Israel
Texto completo
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XML
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Osteopetrosis / Proteínas Nucleares / Inmunodeficiencia Combinada Grave / Proteínas de Homeodominio / Factor 6 Asociado a Receptor de TNF / Proteínas de Unión al ADN Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Female / Humans / Infant / Male / Newborn Idioma: En Revista: Clin Genet Año: 2017 Tipo del documento: Article País de afiliación: Israel