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

被引：0
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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
来源：
BMC Medical Genomics | / 14卷
关键词：
X-linked sideroblastic anemia; Hemizygous;
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