Autosomal dominant reticulo-endothelial iron overload associated with a three base pair deletion in the ferroportin 1 gene

被引:0
|
作者
Devalia, V
Carter, K
Walker, AP
Perkins, SJ
Worwood, M
May, A
Dooley, JS
机构
[1] Prince Wales Hosp, Dept Haematol, Bridgend, Wales
[2] Cardiff Univ, Dept Haematol, Cardiff CF4 4XN, S Glam, Wales
[3] UCL, Royal Free & Univ Coll Sch Med, Dept Med, London, England
[4] UCL, Royal Free & Univ Coll Sch Med, Dept Biochem & Mol Biol, London, England
关键词
D O I
10.1016/S0168-8278(02)80643-2
中图分类号
R57 [消化系及腹部疾病];
学科分类号
摘要
642
引用
收藏
页码:182 / 182
页数:1
相关论文
共 33 条
  • [1] Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3)
    Devalia, V
    Carter, K
    Walker, AP
    Perkins, SJ
    Worwood, M
    May, A
    Dooley, JS
    BLOOD, 2002, 100 (02) : 695 - 697
  • [2] Novel mutation in ferroportin 1 gene is associated with autosomal dominant iron overload
    Jouanolle, AM
    Douabin-Gicquel, V
    Halimi, C
    Loréal, O
    Fergelot, P
    Delacour, T
    de Lajarte-Thirouard, AS
    Turlin, B
    Le Gall, JY
    Cadet, E
    Rochette, J
    David, V
    Brissot, P
    JOURNAL OF HEPATOLOGY, 2003, 39 (02) : 286 - 289
  • [3] Genetic hyperferritinaemia and reticuloendothelial iron overload associated with a three base pair deletion in the coding region of the ferroportin gene (SLC11A3)
    Cazzola, M
    Cremonesi, L
    Papaioannou, M
    Soriani, N
    Kioumi, A
    Charalambidou, A
    Paroni, R
    Romtsou, K
    Levi, S
    Ferrari, M
    Arosio, P
    Christakis, J
    BRITISH JOURNAL OF HAEMATOLOGY, 2002, 119 (02) : 539 - 546
  • [4] Genetic hyperferritinemia and selective reticuloendothelial iron overload associated with a three base pair deletion in the coding region of the ferroportin gene (SLC11A3).
    Cazzola, M
    Cremonesi, L
    Papaioannou, M
    Soriani, N
    Charalambidou, A
    Bergamaschi, G
    Christakis, Y
    Arosio, P
    BLOOD, 2002, 100 (11) : 446A - 446A
  • [5] Autosomal dominant iron overload due to a novel mutation of ferroportin1 associated with parenchymal iron loading and cirrhosis
    Wallace, DF
    Clark, RM
    Harley, HAJ
    Subramaniam, VN
    JOURNAL OF HEPATOLOGY, 2004, 40 (04) : 710 - 713
  • [6] OCULAR FINDINGS ASSOCIATED WITH A 3-BASE-PAIR DELETION IN THE PERIPHERIN-RDS GENE IN AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA
    WROBLEWSKI, JJ
    WELLS, JA
    ECKSTEIN, A
    FITZKE, FW
    JUBB, C
    KEEN, TJ
    INGLEHEARN, CF
    BHATTACHARYA, SS
    ARDEN, GB
    JAY, MR
    BIRD, AC
    BRITISH JOURNAL OF OPHTHALMOLOGY, 1994, 78 (11) : 831 - 836
  • [7] A five base-pair deletion in ELOVI4 is associated with two related forms of autosomal dominant macular dystrophy.
    Zhang, K
    Wong, PW
    Ayyagari, R
    Li, W
    Yang, Z
    Allikmets, R
    Zack, DJ
    Sieving, PA
    Austin, CP
    Petrukhin, K
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2001, 42 (04) : S323 - S323
  • [8] Autosomal dominant reticuloendothelial iron overload (HFE type 4) due to a new missense mutation in the FERROPORTIN 1 gene (SLC11A3) in a large French-Canadian family
    Rivard, SR
    Lanzara, C
    Grimard, D
    Carella, M
    Simard, H
    Ficarella, R
    Simard, R
    D'Adamo, AP
    De Braekeleer, M
    Gasparini, P
    HAEMATOLOGICA, 2003, 88 (07) : 824 - 826
  • [9] A novel 3-base pair deletion of the CRYAA gene identified in a large Chinese pedigree featuring autosomal dominant congenital perinuclear cataract
    Kong, X. D.
    Liu, N.
    Shi, H. R.
    Dong, J. M.
    Zhao, Z. H.
    Liu, J.
    Li-Ling, J.
    Yang, Y. X.
    GENETICS AND MOLECULAR RESEARCH, 2015, 14 (01) : 426 - 432
  • [10] A homozygous 1-base pair deletion (1147delA) in the arrestin gene in autosomal recessive retinitis pigmentosa
    Nakazawa, M
    Wada, Y
    Tamai, M
    RETINAL DEGENERATIVE DISEASES AND EXPERIMENTAL THERAPY, 1999, : 145 - 150