Browsing by Subject "Mutación con Ganancia de Función"

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Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.

Toubiana, Julie; Okada, Satoshi; Hiller, Julia; Oleastro, Matías; Lagos Gomez, Macarena; Aldave Becerra, Juan Carlos; Ouachée-Chardin, Marie; Fouyssac, Fanny; Mohan Girisha, Katta; Etzioni, Amos; Van Montfrans, Joris; Camcioglu, Yildiz; Kerns, Leigh Ann; Belohradsky, Bernd; Blanche, Stephane; 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, Caludia (American Society of Hematology, 2016)
Acceso abierto

Since their discovery in patients with autosomal dominant (AD) chronic mucocutaneous candidiasis (CMC) in 2011, heterozygous STAT1 gain-of-function (GOF) mutations have increasingly been identified worldwide. The clinical ...