Single-Cell Transcriptional Landscapes of Human Bone Marrow Reveal Distinct Erythroid Phenotypes Underpinned By Genotype in Diamond-Blackfan Anemia

Background: Diamond- Blackfan Anemia (DBA) is a rare, heritable ribosomopathy caused by mutations in ribosomal protein large (RPL) and small (RPS) subunit genes. The diagnostic criteria of DBA include presentation in infancy with virtually no mature erythroblasts (EB) on bone marrow (BM) examination...

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Veröffentlicht in:	Blood 2020-11, Vol.136 (Supplement 1), p.1-2
Hauptverfasser:	Iskander, Deena, Wang, Guanlin, Heuston, Elisabeth F, Christodoulidou, Chrysi, Psaila, Bethan, Robinson, Mark E, Chaidos, Aristeidis, Trivedi, Pritesh, Trasanidis, Nikolaos, Katsarou, Alexia, Szydlo, Richard, SequencingProgram, NISC Comparative, Al-Oqaily, Qais, Caputo, Valentina S, Ponnusamy, Kanagaraju, Roy, Anindita, Karnik, Leena, Naresh, Kikkeri, Mead, Adam J., Thongjuea, Supat, Brand, Marjorie, de la Fuente, Josu, Bodine, David M., Roberts, Irene, Karadimitris, Anastasios
Format:	Artikel
Sprache:	eng
Online-Zugang:	Volltext
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