A new severe congenital neutropenia syndrome associated with autosomal recessive COPZ1 mutations
与常染色体隐性COPZ1基因突变相关的新型严重先天性中性粒细胞减少症
期刊:Blood
影响因子:23.1
doi:10.1182/blood.2023022576
Borbaran Bravo, Natalia; Deordieva, Ekaterina; Doll, Larissa; ElGamacy, Mohammad; Dannenmann, Benjamin; Azevedo, Joana; Iannuzzo, Alberto; Delafontaine, Selket; Lehners, Moritz; Kolodziej, Marius; Hernandez Alvarez, Birte; Hellmuth, Anna-Sophia; Ritter, Malte; Findik, Betül; Zakharova, Viktoria; Bräuning, Sandro; Kandabarau, Sergey; Lengerke, Claudia; Feil, Robert; Meyts, Isabelle; Delon, Jérôme; Templin, Markus; Sturm, Marc; Rieß, Olaf; Zeidler, Cornelia; Welte, Karl; Shcherbina, Anna; Klimiankou, Maksim; Skokowa, Julia
