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

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

dc.contributor.author	Bravo, Natalia Borbaran
dc.contributor.author	Doll, Larissa
dc.contributor.author	ElGamacy, Mohammad
dc.contributor.author	Dannenmann, Benjamin
dc.contributor.author	Lehners, Moritz
dc.contributor.author	Kolodziej, Marius
dc.contributor.author	Hellmuth, Anna-Sophia
dc.contributor.author	Ritter, Malte
dc.contributor.author	Kandabarau, Sergey
dc.contributor.author	Lengerke, Claudia
dc.contributor.author	Feil, Robert
dc.contributor.author	Templin, Markus
dc.contributor.author	Sturm, Marc
dc.contributor.author	Zeidler, Cornelia
dc.contributor.author	Welte, Karl
dc.contributor.author	Klimiankou, Maksim
dc.contributor.author	Skokowa, Julia
dc.contributor.author	Alvarez, Birte Hernandez
dc.contributor.author	Rieß, Olaf
dc.contributor.author	Findik, Betül
dc.contributor.author	Bräuning, Sandro
dc.date.accessioned	2025-09-19T13:35:56Z
dc.date.available	2025-09-19T13:35:56Z
dc.date.issued	2025
dc.identifier.issn	0006-4971
dc.identifier.uri	http://hdl.handle.net/10900/170342
dc.language.iso	en	de_DE
dc.publisher	Amsterdam : Elsevier	de_DE
dc.relation.uri	http://dx.doi.org/10.1182/blood.2023022576	de_DE
dc.subject.ddc	610	de_DE
dc.title	A new severe congenital neutropenia syndrome associated with autosomal recessive COPZ1 mutations	de_DE
dc.type	Article	de_DE
utue.quellen.id	20250630000000_00499
utue.publikation.seiten	2317-2335	de_DE
utue.personen.roh	Bravo, Natalia Borbaran
utue.personen.roh	Deordieva, Ekaterina
utue.personen.roh	Doll, Larissa
utue.personen.roh	ElGamacy, Mohammad
utue.personen.roh	Dannenmann, Benjamin
utue.personen.roh	Azevedo, Joana
utue.personen.roh	Iannuzzo, Alberto
utue.personen.roh	Delafontaine, Selket
utue.personen.roh	Lehners, Moritz
utue.personen.roh	Kolodziej, Marius
utue.personen.roh	Alvarez, Birte Hernandez
utue.personen.roh	Hellmuth, Anna-Sophia
utue.personen.roh	Ritter, Malte
utue.personen.roh	Findik, Betuel
utue.personen.roh	Zakharova, Viktoria
utue.personen.roh	Braeuning, Sandro
utue.personen.roh	Kandabarau, Sergey
utue.personen.roh	Lengerke, Claudia
utue.personen.roh	Feil, Robert
utue.personen.roh	Meyts, Isabelle
utue.personen.roh	Delon, Jerome
utue.personen.roh	Templin, Markus
utue.personen.roh	Sturm, Marc
utue.personen.roh	Riess, Olaf
utue.personen.roh	Zeidler, Cornelia
utue.personen.roh	Welte, Karl
utue.personen.roh	Shcherbina, Anna
utue.personen.roh	Klimiankou, Maksim
utue.personen.roh	Skokowa, Julia
dcterms.isPartOf.ZSTitelID	Blood	de_DE
dcterms.isPartOf.ZS-Issue	20	de_DE
dcterms.isPartOf.ZS-Volume	145	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE
utue.fakultaet	07 Mathematisch-Naturwissenschaftliche Fakultät	de_DE