Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype
Articolo
Data di Pubblicazione:
2016
Tipologia CRIS:
1.1 Articolo in rivista
Keywords:
Adolescent; Adult; Aged; Candidiasis, Chronic Mucocutaneous; Child; Child, Preschool; Cohort Studies; Female; Genetic Predisposition to Disease; Heterozygote; Humans; Infant; Male; Middle Aged; Phenotype; STAT1 Transcription Factor; Young Adult; Genetic Association Studies; Mutation; Biochemistry; Immunology; Hematology; Cell Biology
Elenco autori:
Toubiana, Julie; Okada, Satoshi; Hiller, Julia; Oleastro, Matias; Gomez, Macarena Lagos; Becerra, Juan Carlos Aldave; 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
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