A new mutation of Wilson's disease p-type ATPase gene in a patient with cirrhosis and coombs-positive hemolytic anemia

被引：9
|
作者：
Leggio, L
Addolorato, G
Loudianos, G
Abenavoli, L
Lepori, M
Vecchio, FM
Rapaccini, GL
De Virgiliis, S
Gasbarrini, G
机构：
[1] Univ Cattolica Sacro Cuore, Inst Internal Med, I-00168 Rome, Italy
[2] Univ Cattolica Sacro Cuore, Inst Pathol, I-00168 Rome, Italy
[3] Osped Reg Microcitemie Cagliari, Cagliari, Italy
[4] CNR, Inst Neurogenet & Neuropharmacol, Cagliari, Italy
[5] Univ Cagliari, Dept Biomed Sci & Biotechnol, Cagliari, Italy
来源：
DIGESTIVE DISEASES AND SCIENCES | 2006年 / 51卷 / 01期
关键词：
Wilson's disease; homozygote mutation; genotype; phenotype;
D O I：
10.1007/s10620-006-3080-8
中图分类号：
R57 [消化系及腹部疾病];
学科分类号：
摘要：
[No abstract available]
引用
收藏
页码：34 / 38
页数：5
相关论文
共 50 条
  • [1] A New Mutation of Wilson's Disease P-Type ATPase Gene in a Patient with Cirrhosis and Coombs-Positive Hemolytic Anemia
    Lorenzo Leggio
    Giovanni Addolorato
    Georgios Loudianos
    Ludovico Abenavoli
    Maria Barbara Lepori
    Fabio Maria Vecchio
    Gian Ludovico Rapaccini
    Stefano De Virgiliis
    Giovanni Gasbarrini
    Digestive Diseases and Sciences, 2006, 51 : 34 - 38
  • [2] COOMBS-POSITIVE HEMOLYTIC ANEMIA IN HODGKINS DISEASE
    EISNER, E
    LEY, AB
    MAYER, K
    ANNALS OF INTERNAL MEDICINE, 1967, 66 (02) : 258 - +
  • [3] Coombs-positive autoimmune hemolytic anemia in Crohn's disease
    Plikat, K
    Rogler, G
    Schölmerich, J
    EUROPEAN JOURNAL OF GASTROENTEROLOGY & HEPATOLOGY, 2005, 17 (06) : 661 - 666
  • [4] Comparative response to splenectomy in coombs-positive autoimmune hemolytic anemia with or without associated disease
    Akpek, G
    McAneny, D
    Weintraub, L
    AMERICAN JOURNAL OF HEMATOLOGY, 1999, 61 (02) : 98 - 102
  • [5] COOMBS-POSITIVE HEMOLYTIC-ANEMIA IN HODGKINS-DISEASE - CASE PRESENTATION AND REVIEW OF THE LITERATURE
    SIERRA, RD
    MILITARY MEDICINE, 1991, 156 (12) : 691 - 692
  • [6] THE WILSON DISEASE GENE IS A PUTATIVE COPPER TRANSPORTING P-TYPE ATPASE SIMILAR TO THE MENKES GENE
    BULL, PC
    THOMAS, GR
    ROMMENS, JM
    FORBES, JR
    COX, DW
    NATURE GENETICS, 1993, 5 (04) : 327 - 337
  • [7] Acute hemolytic anemia as initial manifestation in a patient with Wilson's disease
    Rath, HC
    Enger, IM
    Ruschoff, J
    Scholmerich, J
    Holstege, A
    ZEITSCHRIFT FUR GASTROENTEROLOGIE, 1997, 35 (03): : 199 - 203
  • [8] A new variant deletion of a copper-transporting P-type ATPase gene found in patients with Wilson's disease presenting with fulminant hepatic failure
    Toshihide Okada
    Toshio Morise
    Yasuo Takeda
    Hiroshi Mabuchi
    Journal of Gastroenterology, 2000, 35 : 278 - 283
  • [9] A new variant deletion of a copper-transporting P-type ATPase gene found in patients with Wilson's disease presenting with fulminant hepatic failure
    Okada, T
    Morise, T
    Takeda, Y
    Mabuchi, H
    JOURNAL OF GASTROENTEROLOGY, 2000, 35 (04) : 278 - 283
  • [10] THE WILSON DISEASE GENE IS A PUTATIVE COPPER TRANSPORTING P-TYPE ATPASE SIMILAR TO THE MENKES GENE (VOL 5, PG 327, 1993)
    BULL, PC
    THOMAS, GR
    ROMMENS, JM
    FORBES, JR
    COX, DW
    NATURE GENETICS, 1994, 6 (02) : 214 - 214
12345