Identification of a novel RPS26 nonsense mutation in a Chinese Diamond-Blackfan Anemia patient

Identification of a novel RPS26 nonsense mutation in a Chinese Diamond-Blackfan Anemia patient

Abstract 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 mutati...

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Bibliographic Details
Main Authors: Xiaodong Shi, Xiaolan Huang, Yu Zhang, Xiaodai Cui
Format: Article
Language:English
Published: BMC 2019-07-01
Series:BMC Medical Genetics
Subjects:
Diamond-Blackfan
DBA10
RPS26
Online Access:http://link.springer.com/article/10.1186/s12881-019-0848-1

Internet

http://link.springer.com/article/10.1186/s12881-019-0848-1

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