A hemizygous p.R204Q mutation in the ALAS2 gene underlies X-linked sideroblastic anemia in an adult Chinese Han man

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作者
Jinbo Huang
Meili Ge
Yingqi Shao
Min Wang
Peng Jin
Jiali Huo
Xingxin Li
Jing Zhang
Neng Nie
Yizhou Zheng
机构
[1] Chinese Academy of Medical Science and Peking Union Medical College,State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Institute of Hematology and Blood Diseases Hospital
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BMC Medical Genomics | / 14卷
关键词
X-linked sideroblastic anemia; Hemizygous;
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