科研之友
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摘要
Diamond-Blackfan anemia (DBA) is an inherited bone marrow failure syndrome characterized by pure red cell aplasia, various congenital anomalies, and cancer predisposition. We report a novel mutation in RP517 gene in a Korean patient with DBA. The mutation occurred in the translation initiation codon, changing Atg to Gtg (c 1A>G), thus disrupting the natural start of the RPS17 protein brosynthesis. This is the third case of DBA flow a RPS17 mutation in the literature and is the second case of a RPS17 mutation in the translation initiation codon, following c 2T>G.
- 出版日期2010-4
