Mutation analysis of transferrin-receptor 2 in patients with atypical hemochromatosis

被引:22
|
作者
Hofmann, WK [1 ]
Tong, XJ [1 ]
Ajioka, RS [1 ]
Kushner, JP [1 ]
Koeffler, HP [1 ]
机构
[1] Univ Calif Los Angeles, Sch Med, Cedars Sinai Res Inst, Div Hematol Oncol, Los Angeles, CA 90048 USA
关键词
D O I
10.1182/blood-2002-04-1077
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:1099 / 1100
页数:2
相关论文
共 50 条
  • [31] LACK OF HEPATIC TRANSFERRIN RECEPTOR EXPRESSION IN HEMOCHROMATOSIS
    SCIOT, R
    PATERSON, AC
    VANDENOORD, JJ
    DESMET, VJ
    HEPATOLOGY, 1987, 7 (05) : 831 - 837
  • [32] SERUM CONCENTRATIONS OF TRANSFERRIN RECEPTOR IN HEREDITARY HEMOCHROMATOSIS
    LEDUE, TB
    CRAIG, WY
    CLINICAL CHEMISTRY, 1995, 41 (07) : 1053 - 1054
  • [33] REGULATION OF THE HEPATIC TRANSFERRIN RECEPTOR IN HEREDITARY HEMOCHROMATOSIS
    LOMBARD, M
    NAOUMOV, NV
    BOMFORD, A
    HYNES, M
    ROBERTS, S
    CROWE, J
    WILLIAMS, R
    HEPATOLOGY, 1987, 7 (05) : 1107 - 1107
  • [34] REGULATION OF THE HEPATIC TRANSFERRIN RECEPTOR IN HEREDITARY HEMOCHROMATOSIS
    LOMBARD, M
    BOMFORD, A
    HYNES, M
    NAOUMOV, NV
    ROBERTS, S
    CROWE, J
    WILLIAMS, R
    HEPATOLOGY, 1989, 9 (01) : 1 - 5
  • [35] A Novel Compound Heterozygote Mutation of Transferrin Receptor2 Gene Exhibits Severe Diabetes in a Japanese Patient with Hemochromatosis
    Tsuchida, Ken-Ichi
    Taneda, Shinji
    Misawa, Kazushi
    Nakayama, Hidetaka
    Manda, Naoki
    Hayashi, Hisao
    DIABETES, 2009, 58 : A589 - A589
  • [36] Human platelets express hemochromatosis protein (HFE) and transferrin receptor 2
    Hannuksela, J
    Parkkila, S
    Waheed, A
    Britton, RS
    Fleming, RE
    Bacon, BR
    Sly, WS
    EUROPEAN JOURNAL OF HAEMATOLOGY, 2003, 70 (04) : 201 - 206
  • [37] Mutations in transferrin receptor-2 in hemochromatosis type 3.
    Roetto, A
    Camaschella, C
    Cali, A
    De Gobbi, M
    Carella, M
    Majorano, N
    Totaro, A
    Gasparini, P
    AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (04) : 385 - 385
  • [38] New mutations inactivating transferrin receptor 2 in hemochromatosis type 3
    Roetto, A
    Totaro, A
    Piperno, A
    Piga, A
    Longo, F
    Garozzo, G
    Calì, A
    De Gobbi, M
    Gasparini, P
    Camaschella, C
    BLOOD, 2001, 97 (09) : 2555 - 2560
  • [39] Differential regulation of hepatic transferrin receptor and transferrin receptor 2 gene expression in a murine model of hereditary hemochromatosis.
    Fleming, RE
    Migas, MC
    Holden, C
    Waheed, A
    Britton, R
    Bacon, BR
    Sly, WS
    FASEB JOURNAL, 2000, 14 (04): : A483 - A483
  • [40] NEONATAL HEMOCHROMATOSIS - GENETIC-ANALYSIS OF TRANSFERRIN-RECEPTOR, H-APOFERRITIN, AND L-APOFERRITIN LOCI AND OF THE HUMAN-LEUKOCYTE ANTIGEN CLASS-I REGION
    HARDY, L
    HANSEN, JL
    KUSHNER, JP
    KNISELY, AS
    AMERICAN JOURNAL OF PATHOLOGY, 1990, 137 (01): : 149 - 153