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Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype: an international survey of 274 patients

Lookup NU author(s): Dr Desa Lilic

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Author(s): Toubiana J, Okada S, Hiller J, Oleastro M, Lagos Gomez M, Aldave Becerra JC, Bousfiha A, Rodriguez-Gallego C, Meyts I, Kisand K, Reichenbach J, Renner ED, Rosenzweig S, Grimbacher B, van de Veerdonk FL, Traidl-Hoffmann C, Picard C, Marodi L, Morio T, Kobayashi M, Lilic D, Milner JD, Holland S, Casanova J-L, Puel A, on behalf of the International STAT1-GOF study group

Publication type: Article

Publication status: Published

Journal: Blood

Year: 2016

Volume: 127

Issue: 25

Pages: 3154-3164

Print publication date: 01/06/2016

Online publication date: 25/04/2016

Acceptance date: 01/04/2016

Date deposited: 06/05/2016

ISSN (print): 0006-4971

ISSN (electronic): 1528-0020

Publisher: American Society of Hematology

URL: http://dx.doi.org/10.1182/blood-2015-11-679902

DOI: 10.1182/blood-2015-11-679902

PubMed id: 27114460


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