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Identification of a novel RPS26 nonsense mutation in a Chinese Diamond-Blackfan Anemia patient
BACKGROUND: Diamond-Blackfan anemia (DBA), a congenital pure red cell aplasia (PRCA), is characterized by normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. DBA10, a subset of DBA, is an autosomal dominant disease caused by a mutation in RP...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2019
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6612111/ https://www.ncbi.nlm.nih.gov/pubmed/31277601 http://dx.doi.org/10.1186/s12881-019-0848-1 |