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

被引：0
|
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;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
相关论文
共 43 条
  • [41] Iron overload in an African American woman with SS hemoglobinopathy and a promoter mutation in the X-linked erythroid-specific 5-aminolevulinate synthase (ALAS2) gene
    Barton, JC
    Lee, PL
    Bertoli, LF
    Beutler, E
    BLOOD CELLS MOLECULES AND DISEASES, 2005, 34 (03) : 226 - 228
  • [42] Iron overload in an African American woman with SS hemoglobinopathy and a promoter mutation in the X-linked erythroid-specific 5-aminolevulinate synthase (ALAS2) gene.
    Barton, JC
    Lee, PL
    Bertoli, LF
    Beutler, E
    BLOOD, 2004, 104 (11) : 6B - 7B
  • [43] Generation of a gene-corrected isogenic iPSC cell line from an X-linked retinoschisis patient with a hemizygous mutation c.304C > T (p.R102W) in RS1 gene
    Mao, Shengru
    Sun, Xihao
    Duan, Chunwen
    Jiang, Bing
    Ma, Hongjie
    Ji, Shangli
    Liang, Yuqin
    Zhang, Ruting
    Chen, Jiansu
    Tang, Shibo
    STEM CELL RESEARCH, 2023, 73
12345