Gain-of-function mutation in complement C2 protein identified in a patient with aHUS - 05/10/20
Doi : 10.1016/j.jaci.2020.02.014
Aleksandra Urban, MSc a, Elena Volokhina, PhD b, Anna Felberg, MSc a, Grzegorz Stasiłojć, PhD a, Anna M. Blom, PhD c, Ilse Jongerius, PhD d, e, Lambertus van den Heuvel, PhD b, f, Marcel Thiel, MSc a, Stanisław Ołdziej, PhD a, Emilia Arjona, PhD g, Santiago Rodriguez de Córdoba, PhD g, Marcin Okrój, PhD a 
a Intercollegiate Faculty of Biotechnology, University of Gdańsk and Medical University of Gdańsk, Gdańsk, Poland
b Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Amalia Children's Hospital, Department of Pediatric Nephrology, Department of Laboratory Medicine, Nijmegen, The Netherlands
c Department of Translational Medicine, Lund University, Malmö, Sweden
d Sanquin Research, the Department of Immunopathology, Amsterdam and Landsteiner Laboratory, Amsterdam University Medical Center, University of Amsterdam, The Netherlands
e Emma Children's Hospital, Department of Pediatric Immunology, Rheumatology and Infectious Diseases, Amsterdam University Medical Center, The Netherlands
f Department of Pediatric Nephrology and Department of Growth and Regeneration, University Hospitals Leuven, Belgium
g Centro de Investigaciones Biológicas and Centro de Investigación Biomédica en Enfermedades Raras, Madrid, Spain
| Supported by National Science Centre Poland (grant 2015/18/M/NZ6/00334), Ministerio de Economía y Competitividad/FEDER (grant SAF2015-66287-R), and Autonomous Region of Madrid (grant S2017/BMD-3673). |
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| Disclosure of potential conflict of interest: The authors declare that they have no relevant conflicts of interest. |
© 2020
The Authors. Publié par Elsevier Masson SAS. Tous droits réservés.
Vol 146 - N° 4
P. 916 - octobre 2020 Retour au numéro
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