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Kaan Boztug
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Journal Articles

An R307H substitution in GATA1 that prevents Ser310 phosphorylation causes severe fetal anemia

Benjamin Hetzer, Andreas Meryk, Gabriele Kropshofer, Caroline Bargehr, Raul Jimenez-Heredia, Kaan Boztug, Beatrix E. Mühlegger, Michael Dworzak, Thomas Gruber, Roman Crazzolara
Journal: Blood Advances
Blood Adv (2022) 6 (14): 4330–4334.
https://doi.org/10.1182/bloodadvances.2021006347
Published: 2022
Includes: Supplemental data
Journal Articles

Identification of germline monoallelic mutations in IKZF2 in patients with immune dysregulation

Clinical Trials & Observations
Tala Shahin, Daniel Mayr, Mohamed R. Shoeb, Hye Sun Kuehn, Birgit Hoeger, Sarah Giuliani, Lisa M. Gawriyski, Özlem Yüce Petronczki, Jérôme Hadjadj, Sevgi Köstel Bal, Samaneh Zoghi, Matthias Haimel, Raul Jimenez Heredia, David Boutboul, Michael P. Triebwasser, Fanny Rialland-Battisti, Nathalie Costedoat Chalumeau, Pierre Quartier, Stuart G. Tangye, Thomas A. Fleisher, Nima Rezaei, Neil Romberg, Sylvain Latour, Markku Varjosalo, Florian Halbritter, Frédéric Rieux-Laucat, Irinka Castanon, Sergio D. Rosenzweig, Kaan Boztug
Journal: Blood Advances
Blood Adv (2022) 6 (7): 2444–2451.
https://doi.org/10.1182/bloodadvances.2021006367
Published: 2022
Includes: Supplemental data