title: A novel splicing mutation of TMPRSS6 in a Chinese child with iron-refractory iron deficiency anaemia.
authors: Department of Anaemia Therapeutic Centre, Institute of Haematology and Blood Diseases Hospital, CAMS & PUMC, Tianjin, China.|Department of Haematology, Tumour Hospital of Zhengzhou University, Zhengzhou, China.
authors: Yuanyuan
authors: Y
authors: Xiong
authors: Department of Anaemia Therapeutic Centre, Institute of Haematology and Blood Diseases Hospital, CAMS & PUMC, Tianjin, China.
authors: Zhijie
authors: Z
authors: Wu
authors: Department of Anaemia Therapeutic Centre, Institute of Haematology and Blood Diseases Hospital, CAMS & PUMC, Tianjin, China.
authors: Wenrui
authors: W
authors: Yang
authors: Department of Anaemia Therapeutic Centre, Institute of Haematology and Blood Diseases Hospital, CAMS & PUMC, Tianjin, China.
authors: Xin
authors: X
authors: Zhao
authors: Department of Anaemia Therapeutic Centre, Institute of Haematology and Blood Diseases Hospital, CAMS & PUMC, Tianjin, China.
authors: Guangxin
authors: G
authors: Peng
authors: State Key Laboratory of Experimental Haematology, Institute of Haematology & Blood Diseases Hospital, CAMS & PUMC, Tianjin, China.
authors: Kejing
authors: K
authors: Tang
authors: State Key Laboratory of Experimental Haematology, Institute of Haematology & Blood Diseases Hospital, CAMS & PUMC, Tianjin, China.
authors: Zheng
authors: Z
authors: Tian
authors: State Key Laboratory of Experimental Haematology, Institute of Haematology & Blood Diseases Hospital, CAMS & PUMC, Tianjin, China.
authors: Haiyan
authors: H
authors: Xing
authors: State Key Laboratory of Experimental Haematology, Institute of Haematology & Blood Diseases Hospital, CAMS & PUMC, Tianjin, China.
authors: Qing
authors: Q
authors: Rao
authors: State Key Laboratory of Experimental Haematology, Institute of Haematology & Blood Diseases Hospital, CAMS & PUMC, Tianjin, China.
authors: Min
authors: M
authors: Wang
authors: State Key Laboratory of Experimental Haematology, Institute of Haematology & Blood Diseases Hospital, CAMS & PUMC, Tianjin, China.
authors: Jianxiang
authors: J
authors: Wang
authors: Department of Anaemia Therapeutic Centre, Institute of Haematology and Blood Diseases Hospital, CAMS & PUMC, Tianjin, China. zhfk@hotmail.com.
authors: Fengkui
authors: F
authors: Zhang
mesh_terms: D018798:Anemia, Iron-Deficiency / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D002675:Child, Preschool; D002681:China; D005091:Exons / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D022821:RNA Splice Sites / Q000235:genetics*; D060888:Real-Time Polymerase Chain Reaction; D012697:Serine Endopeptidases / Q000235:genetics*
chemical_list: D008565:Membrane Proteins; D022821:RNA Splice Sites; D012697:Serine Endopeptidases; C504318:TMPRSS6 protein, human
keywords: TMPRSS6; anaemia; hepcidin; iron; iron-refractory iron deficiency anaemia