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GATA-1 Defects in Diamond–Blackfan Anemia: Phenotypic Characterization Points to a Specific Subset of Disease

Diamond–Blackfan anemia (DBA) is one of the inherited bone marrow failure syndromes marked by erythroid hypoplasia. Underlying variants in ribosomal protein (RP) genes account for 80% of cases, thereby classifying DBA as a ribosomopathy. In addition to RP genes, extremely rare variants in non-RP gen...

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Detalles Bibliográficos
Autores principales:	van Dooijeweert, Birgit, Kia, Sima Kheradmand, Dahl, Niklas, Fenneteau, Odile, Leguit, Roos, Nieuwenhuis, Edward, van Solinge, Wouter, van Wijk, Richard, Da Costa, Lydie, Bartels, Marije
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8949872/ https://www.ncbi.nlm.nih.gov/pubmed/35328001 http://dx.doi.org/10.3390/genes13030447

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