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1 |
Material Type: Artigo
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Partial recessive IFN-γR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindredsSOLOGUREN, Ithaisa ; BOISSON-DUPUIS, Stéphanie ; SANTIAGO, Esther ; XIAOFEI KONG ; JANNIERE, Lucile ; COLINO, Elena ; HERRERA-RAMOS, Estefanía ; FRANCES, Adela ; NAVARRETE, Carmen ; BLANCHE, Stéphane ; FARIA, Emilia ; REMISZEWSKI, Pawet ; PESTANO, Jose ; CORDEIRO, Ana ; FREEMAN, Alexandra ; HOLLAND, Steven ; ABARCA, Katia ; VALERON-LEMAUR, Mónica ; GONCALO-MARQUES, José ; SILVEIRA, Luisa ; GARCIA-CASTELLANO, José Manuel ; CAMINERO, José ; PEREZ-ARELLANO, José Luis ; BENOIT VINCENT, Quentin ; BUSTAMANTE, Jacinta ; ABEL, Laurent ; CASANOVA, Jean-Laurent ; RODRIGUEZ-GALLEGO, Carlos ; FERNANDEZ-PEREZ, Leandro ; CHAPGIER, Ariane ; CARDENES, Maria ; FEINBERG, Jacqueline ; GARCIA-LAORDEN, M. Isabel ; PICARD, CapucineHuman molecular genetics, 2011-04, Vol.20 (8), p.1509-1523 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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2 |
Material Type: Artigo
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Autosomal recessive Interleukin-1 receptor-associated kinase 4 deficiency in fourth-degree relativesCardenes, María ; von Bernuth, Horst ; García-Saavedra, Ayoze ; Santiago, Esther ; Puel, Anne ; Ku, Cheng-Lung ; Emile, Jean-François ; Picard, Capucine ; Casanova, Jean-Laurent ; Colino, Elena ; Bordes, Ana ; Garfia, Antonio ; Rodríguez-Gallego, CarlosThe Journal of pediatrics, 2006-04, Vol.148 (4), p.549-551 [Periódico revisado por pares]New York, NY: Mosby, IncTexto completo disponível |