IFNAR2 Deficiency Causing Dysregulation of NK Cell Functions and Presenting With Hemophagocytic Lymphohistiocytosis

Yazar: Passarelli, Chiara, Civino, Adele, Rossi, Marianna N., Cifaldi, Loredana, Lanari, Valentina, Moneta, Gian Marco, Caiello, Ivan, Bracaglia, Claudia, Montinaro, Raffaele, Novelli, Antonio, De Benedetti, Fabrizio, Prencipe, Giusi
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p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas

Yazar: Pinna, Valentina, Lanari, Valentina, Daniele, Paola, Consoli, Federica, Agolini, Emanuele, Margiotti, Katia, Bottillo, Irene, Torrente, Isabella, Bruselles, Alessandro, Fusilli, Caterina, Ficcadenti, Anna, Bargiacchi, Sara, Trevisson, Eva, Forzan, Monica, Giustini, Sandra, Leoni, Chiara, Zampino, Giuseppe, Cristina Digilio, Maria, Dallapiccola, Bruno, Clementi, Maurizio, Tartaglia, Marco, De Luca, Alessandro
Yayımlandı Eur J Hum Genet (2015)