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

Download full text files

Export metadata

Statistics

Number of document requests

Additional Services

Share in Twitter Search Google Scholar
Metadaten
Author:Julie Toubiana, Satoshi Okada, Julia Hiller, Matias Oleastro, Macarena Lagos Gomez, Juan Carlos Aldave Becerra, Marie Ouachée-Chardin, Fanny Fouyssac, Katta Mohan Girisha, Amos Etzioni, Joris Van Montfrans, Yildiz Camcioglu, Leigh Ann Kerns, Bernd Belohradsky, Stéphane Blanche, Aziz Bousfiha, Carlos Rodriguez-Gallego, Isabelle Meyts, Kai Kisand, Janine Reichenbach, Ellen Renner, Sergio Rosenzweig, Bodo Grimbacher, Frank L. van de Veerdonk, Claudia Traidl-HoffmannORCiDGND, Capucine Picard, Laszlo Marodi, Tomohiro Morio, Masao Kobayashi, Desa Lilic, Joshua D. Milner, Steven Holland, Jean-Laurent Casanova, Anne Puel
URN:urn:nbn:de:bvb:384-opus4-824131
Frontdoor URLhttps://opus.bibliothek.uni-augsburg.de/opus4/82413
ISSN:0006-4971OPAC
ISSN:1528-0020OPAC
Parent Title (English):Blood
Publisher:American Society of Hematology
Type:Article
Language:English
Year of first Publication:2016
Publishing Institution:Universität Augsburg
Release Date:2021/01/14
Volume:127
Issue:25
First Page:3154
Last Page:3164
Note:
on behalf of the International STAT1 Gain-of-Function Study Group
DOI:https://doi.org/10.1182/blood-2015-11-679902
Institutes:Medizinische Fakultät
Medizinische Fakultät / Universitätsklinikum
Medizinische Fakultät / Lehrstuhl für Umweltmedizin
Dewey Decimal Classification:6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit
Licence (German):Deutsches Urheberrecht