Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation
Lisa Mirabello, Payal P Khincha, Steven R Ellis, Neelam Giri, Seth Brodie, Settara C Chandrasekharappa, Frank X Donovan, Weiyin Zhou, Belynda D Hicks, Joseph F Boland, Meredith Yeager, Kristine Jones, Bin Zhu, Mingyi Wang, Blanche P Alter, Sharon A Savage
Journal of Medical Genetics Jun 2017, 54 (6) 417-425; DOI: 10.1136/jmedgenet-2016-104346