학술논문
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype
Document Type
Article
Author
Toubiana, Julie; Okada, Satoshi; Hiller, Julia ; Oleastro, Matias ; Lagos Gomez, Macarena ; Aldave Becerra, Juan Carlos ; Ouachée-Chardin, Marie ; Fouyssac, Fanny ; Girisha, Katta Mohan; Etzioni, Amos; Van Montfrans, Joris; Camcioglu, Yildiz; Kerns, Leigh Ann; Belohradsky, Bernd; Blanche, Stéphane; Bousfiha, Aziz; Rodriguez-Gallego, Carlos; Meyts, Isabelle; Kisand, Kai; Reichenbach, Janine; Renner, Ellen D.; Rosenzweig, Sergio; Grimbacher, Bodo; van de Veerdonk, Frank L.; Traidl-Hoffmann, Claudia; Picard, Capucine; Marodi, Laszlo; Morio, Tomohiro; Kobayashi, Masao; Lilic, Desa; Milner, Joshua D.; Holland, Steven; Casanova, Jean-Laurent; Puel, Anne
Source
In Blood 23 June 2016 127(25):3154-3164
Subject
Language
ISSN
0006-4971