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...

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Detalles Bibliográficos
Autores principales: Shi, Xiaodong, Huang, Xiaolan, Zhang, Yu, Cui, Xiaodai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
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

Internet

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

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