TFR2 Y250X mutation in Italy

被引：0
|
作者：
De Gobbi, M [1 ]
Barilaro, MR
Garozzo, G
Sbaiz, L
Alberti, F
Camaschella, C
机构：
[1] Univ Turin, Azienda Ospedaliera S Luigi, Dipartimento Sci Clin & Biol, Turin, Italy
[2] Azienda Osped Civile M Paterno Arezzo, Serv Immunomatol & Med Transfus, Ragusa, Italy
[3] Osped Infantile Regina Margherita, Genet Mol Lab, Dipartimento Patol Clin, Turin, Italy
来源：
BRITISH JOURNAL OF HAEMATOLOGY | 2001年 / 114卷 / 01期
关键词：
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：243 / 244
页数：2
相关论文
共 50 条
  • [1] Transferrin receptor-2 (TFR2) mutation Y250X in Alabama Caucasian and African American subjects with and without primary iron overload
    Barton, EH
    West, PA
    Rivers, CA
    Barton, JC
    Acton, RG
    BLOOD CELLS MOLECULES AND DISEASES, 2001, 27 (01) : 279 - 284
  • [2] Frequency of Caucasian hemochromatosis-associated Tyr250Stop (Y250X) mutation in the non-classical transferrin receptor gene TFR2 in African Americans.
    West, PA
    Rivers, CA
    Barton, EH
    Barton, JC
    Acton, RT
    BLOOD, 2000, 96 (11) : 224A - 224A
  • [3] Homozygosity for transferrin receptor-2 Y250X mutation induces early iron overload
    Piperno, A
    Roetto, A
    Mariani, R
    Pelucchi, S
    Corengia, C
    Daraio, F
    Piga, A
    Garozzo, G
    Camaschella, C
    HAEMATOLOGICA, 2004, 89 (03) : 359 - 360
  • [4] Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload:: identification of a novel TfR2 mutation
    Mattman, A
    Huntsman, D
    Lockitch, G
    Langlois, S
    Buskard, N
    Ralston, D
    Butterfield, Y
    Rodrigues, P
    Jones, S
    Porto, G
    Marra, M
    De Sousa, M
    Vatcher, G
    BLOOD, 2002, 100 (03) : 1075 - 1077
  • [5] No evidence of Y250X transferrin receptor type 2 mutation in patients with porphyria cutanea tarda - A study of 38 cases
    Dereure, O
    Esculier, C
    Aguilar-Martinez, P
    Dessis, D
    Guillot, B
    Guilhou, JJ
    DERMATOLOGY, 2002, 204 (02) : 158 - 159
  • [6] Is TfR2 the iron sensor?
    Ganz, T
    BLOOD, 2004, 104 (13) : 3839 - 3840
  • [7] A rapid PCR-SSP assay for the hemochromatosis-associated Tyr250Stop mutation in the TFR2 gene
    Rivers, CA
    Barton, JC
    Acton, RT
    GENETIC TESTING, 2001, 5 (02): : 131 - 134
  • [8] Hepcidin is decreased in TFR2 hemochromatosis
    Nemeth, E
    Roetto, A
    Garozzo, G
    Ganz, T
    Camaschella, C
    BLOOD, 2005, 105 (04) : 1803 - 1806
  • [9] The extrahepatic role of TFR2 in iron homeostasis
    Silvestri, Laura
    Nai, Antonella
    Pagani, Alessia
    Camaschella, Clara
    FRONTIERS IN PHARMACOLOGY, 2014, 5
  • [10] Tfr2 suppression benefits β-thalassemic erythropoiesis
    Ginzburg, Yelena Z.
    Fleming, Robert E.
    BLOOD, 2018, 132 (21) : 2215 - 2216
12345