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Autor:
Jana Volejnikova, Dagmar Pospisilova, Blanche P. Alter, Sharon A. Savage, Marcin W. Wlodarski, Antonis Kattamis, Polyxeni Delaporta, Paola Quarello, D. Matthew Gianferante, Thierry Leblanc, Ugo Ramenghi, Adrianna Vlachos, Jeffrey M. Lipton, Frederick D. Goldman, Evangelia Atsidaftos, Maryam Hussain, Lydie Da Costa, Vijay G. Sankaran, Charlotte M. Niemeyer, Neelam Giri, Jason E. Farrar
Publikováno v:
Haematologica. 106:1303-1310
Diamond Blackfan anemia (DBA) is predominantly an autosomal dominant inherited red cell aplasia primarily caused by pathogenic germline variants in ribosomal protein genes. DBA due to pathogenic RPL35A variants has been associated with large 3q29 del