A new severe congenital neutropenia syndrome associated with autosomal recessive COPZ1 mutations

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A new severe congenital neutropenia syndrome associated with autosomal recessive COPZ1 mutations

Author: Bravo, Natalia Borbaran; Deordieva, Ekaterina; Doll, Larissa; ElGamacy, Mohammad; Dannenmann, Benjamin; Azevedo, Joana; Iannuzzo, Alberto; Delafontaine, Selket; Lehners, Moritz; Kolodziej, Marius; Alvarez, Birte Hernandez; Hellmuth, Anna-Sophia; Ritter, Malte; Findik, Betuel; Zakharova, Viktoria; Braeuning, Sandro; Kandabarau, Sergey; Lengerke, Claudia; Feil, Robert; Meyts, Isabelle; Delon, Jerome; Templin, Markus; Sturm, Marc; Riess, Olaf; Zeidler, Cornelia; Welte, Karl; Shcherbina, Anna; Klimiankou, Maksim; Skokowa, Julia
Tübinger Autor(en):
Bravo, Natalia Borbaran
Doll, Larissa
ElGamacy, Mohammad
Dannenmann, Benjamin
Lehners, Moritz
Kolodziej, Marius
Hellmuth, Anna-Sophia
Ritter, Malte
Kandabarau, Sergey
Lengerke, Claudia
Feil, Robert
Templin, Markus
Sturm, Marc
Zeidler, Cornelia
Welte, Karl
Klimiankou, Maksim
Skokowa, Julia
Alvarez, Birte Hernandez
Rieß, Olaf
Findik, Betül
Bräuning, Sandro
Published in: Blood (2025), Bd. 145, H. 20, S. 2317-2335
Verlagsangabe: Amsterdam : Elsevier
Language: English
Full text: http://dx.doi.org/10.1182/blood.2023022576
ISSN: 0006-4971
DDC Classifikation: 610 - Medicine and health
Dokumentart: Article
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